LIST OF EPONYMOUS DISEASES

I-CELL DISEASE lysosomal disorder, from deficiency of ability to phosphorylate mannose, causing an incorrect targeting of potential lysosomal enzymes to extracellular sites instead of lysosomes, characterized by skeletal abnromalities, restricted joint movement, coarse facial features, severe pscyhomotor impairment, death by 8 y.o.

IMERSLUND-GRASBECK SYNDROME juvenile megaloblastic anemia, an autosomal recessive condition where there's a mutation in cubulin, the receptor that binds IF-B12 complex; also associated with proteinuria

IRISH'S NODE left axillary adenopathy associated with metastatic disease, e.g. gastric CA

ISAACS'S SYNDROME neuromyotonia; continuous muscle stiffness, rippling muscle movements (myokymia), delayed relaxation following muscle contraction believed to be due to autoantibodies to presynaptic potassium channels

ISHIHARA PLATES pseudoisochromatic plates (plates with color dots for numbers) for testing color vision

ITO CELLS vitamin A fat-storage cells, of mesenchymal origin found in the space of Disse; during development of cirrhosis, they become activated, transform into fibroblast-like cells

UHTHOFF'S PHENOMENON in multiple sclerosis, sensitivity of symptoms to changes in body temperature or exercise (e.g., visual loss with exercise); initial description in 1890 amblyopia following exercise

UNHAPPY TRIAD lateral knee injury resulting in ACL tear, MCL tear, and medial meniscal injury

UNTERBERGER'S STEPPING TEST for assessing vestibular function, having patient step in one spot with the eye closed; in peripheral lesions, body rotates to side of lesion whereas in central disorders, deviation is irregular

UNVERRICHT-LUNDBORG DISEASE progressive myoclonus epilepsy (EPM1), onset at age 6-15, stimulus-sensitive myoclonus, tonic-clonic seizures, marked sensitivity to photic stimulation; from unstable expansion of a dodecamer minisatellite repeat unit in the promoter region of cystatin B, a widely expressed cysteine protease inhibitor

EAGLE-BARRETT SYNDROME prune-belly syndrome with triad of abdominal muscle deficiency, urinary tract abnormalities, and cryptorchidism

EALE'S DISEASE isolated, peripheral retinal vasculitis

EBSTEIN'S ANOMALY malformation characterized by the downward displacement of the tricuspid valve into the right ventricle due to anomalous attachment of the tricuspid leaflets; associated with maternal exposure to Li

EDINGER-WESTPHAL NUCLEUS part of the cranial nerve III complex involved in direct and consensual light reflex involved in efferent limb of reflex arc

EDWARDS'S SYNDROME trisomy 18, 1/8,000 births, mental retardation, prominent occiput, micrognathia, low-set ears, rocker-bottom feet, flexion deformities of the fingers, and congenital heart disease

EHLERS-DANLOS SYNDROMES clinically and genetically heterogeneous group of disorders that result from defect in collagen synthesis or structure, at least 10 variants, characterized by hyperextensible skin and hypermobile joints

EISENMENGER COMPLEX a ventricular septal defect with right ventricular hypertrophy, severe pulmonary hypertension, and frequent straddling of the defect by a misplaced aortic root

EISENMENGER SYNDROME cardiac failure with significant right to left shunt producing cyanosis due to higher pressure on the right side of the shunt; usually due to the Eisenmenger complex any anomalous circulatory communication that leads to obliterative pulmonary vascular disease; or maybe

ELLSWORTH-HOWARD TEST for diagnosis of pseudohypoparathyroidism by assessing response to exogenous PTH

ELSCHNIG SPOTS yellow (early) or hyperpigmented (late) patches of retinal pigment epithelium overlying infarcted choriocapillaris lobules in hypertensive retinopathy

EMERY-DREIFUSS MUSCULAR DYSTROPHY distinctive form of muscular dystrophy with humero-peroneal weakness and quite pronounced muscle contractions and by severe cardiac arrhythmias which may cause sudden death; due to mutations in lamin A/C gene on 1q21.2-q21.3

EPPING JAUNDICE outbreak of jaundice that occurred in 84 individuals after accidental methylene dianiline ingestion in England in 1965

EPSOM SALTS magnesium sulfate, laxative

EPSTEIN'S PEARLS small, white cysts along the median raphe of the hard palate

EPSTEIN-BARR VIRUS EBV binds to CD21 found on epithelial cells and B cells; however a large number of T suppressor cells and EBV specific cells are seen as atypical lymphocytes

ERB'S PALSY upper plexus palsy affecting C5 and C6 and +/- C7 nerve roots

ERLENMEYER'S FLASK DEFORMITY seen in osteopetrosis, where the ends of long bones are bulbous

EVAN'S SYNDROME ITP and immunohemolytic anemia

EWART'S SIGN in large pericardial effusion, dullness to percussion of the left lung over the angle of the scapula may occur; due to compressive atelectasis by the large pericardial sac

EWING'S SARCOMA onion skinning; small round cell tumor of bone, 85% of cases there is a t(11;22)(q24:q12) translocation.

OBTURATOR SIGN pain upon internal rotation of the leg with the hip and knee flexed; seen in appendicitis, pelvic abscess

OCCAM'S RAZOR described in 14th century, “plurality must not be posited without necessity,” in other words, parsimony in diagnosis

OGILVIE'S SYNDROME massive idiopathic non-obstructive dilatation of the colon

OLLIER'S DISEASE syndrome of multiple enchondromas

OMENN'S SYNDROME combined immunodeficiency with hypereosinophilia

ONDINE'S CURSE faiulure of the automatic control of ventilation, named after mythological tale in which the suitor of Neptune's daughter was cursed to lose automatic control over all bodily functions; associated with mutation in ret proto-oncogene; associated with Hirschsprung's disease

ONUFROWICZ, NUCLEUS OF parasympathetic neurons in the sacral spinal cord that innervate the sphincters of the bowel and bladder

OPPENHEIM'S SIGN involuntary dorsiflexion of the toes when stroking the medial/anterior tibial surface superiorly to inferiorly, indicating upper motor neuron defect

OROYA FEVER from Bartonella bacilliformis, sandfly vector Phlebotomus found in valleys of the Andes mountains, 600-2500 m, profound intravascular hemolytic anemia of a few weeks duration, associated with lesions called verruga peruana resembling Kaposi's sarcoma; aka Carrión's disease

ORTNER'S SYNDROME hoarseness from compression of left recurrent laryngeal nerve by a greatly dilated left atrium (e.g., in mitral stenosis), enlarged tracheobronchial lymph nodes and dilated pulmonary artery

ORTOLANI'S SIGN in congenital hip dislocation, rotate hip with patient in supine position and hip abducted; a “clunk” or “click” represents congenitally dislocated hip

OSBORN WAVE EKG with distinctive convex “hump” at J point associated with hypothermia and temperature around 32C

OSGOOD-SCHLATTER'S DISEASE epiphysitis of tibial tubercle resulting from repeated powerful contractions of the quadriceps seen in adolescents with open physis

OSLER'S NODES tender to painful, purplish, split pea-sized, subcutaneous nodules in the pulp of the fingers and/or toes and thenar and hypothenar eminences; transient, disappearing within several days (5% of patients); in acute bacterial endocarditis, associated with minute infective emboli; aspiration may reveal the causative organism; in subacute bacterial endocarditis, associated with immune complexes and small-vessel arteritis of skin

OSLER'S SIGN palpable brachial or radial artery when cuff > systolic pressure

OSLER-WEBER-RENDU DISEASE hereditary hemorrhagic telangiectasia, larger lesions can be a source of chronic blood loss, systemic emboli, hypoxemia, hepatic dysfunction, and a high-output cardiac failure; important risk factor for brain abscess, especially in affected patients with clubbing, cyanosis, and/or polycythemia; use aminocaproic acid (an antifibrinolytic agent)

OTA, NEVUS OF pigmentation mostly involves the skin and mucous membranes innervated by the first and second branches of the trigeminal nerve

OUCHTERLONY REACTION double diffusion with antigen and antibody stuff

KALLMAN'S SYNDROME anosmia; hypogonadotropic hypogonadism stemming from failure of LHRH-expressing neurons to migrate, etc.

KANAVEL'S SIGN four signs of tenosynovitis: 1. affected finger held in slight flexion; 2. pain over volar aspect of affected finger tendon upon palpation; 3. swelling of affected finger; 4. pain on passive extension of affected finger

KAPOSI'S SARCOMA low-grade vascular tumor associated with HHV-8, four forms, classic (older men of Mediterranean or Jewish extraction), African, organ transplant-associated, and AIDS; differential for skin lesions includes bacillary angiomatosis from Bartonella

KARTAGENER'S SYNDROME a triad of sinusitis, bronchiectasis, and situs inversus; also associated with ciliary dysfunction; Manes Kartagener, Swiss physician, 1897-1975

KASABACH-MERRITT SYNDROME capillary hemangioma associated with thrombocytopenic purpura and extensive and progressively enlarging vascular malformations which may involve large portions of their extremities; bleeding commonly develops in the first year of life, secondary to chronic DIC triggered by stagnant blood flow through the tortuous abnormal vessels; anemia caused by red cell damage as blood passes through deformed vessels of the tumor

KASHIN-BECK DISEASE deforming arthritis associated with selenium deficiency, identified in an area of China where soil is extremely low in selenium

KATAYAMA FEVER acute schistosomiasis, after Katayama valley in Japan where S. japonicum endemic; seen in travlers but not in native people because of exposure in utero; symptoms of prostration, fever, sweats, myalgia, and diarrhea

KAWASAKI'S DISEASE acute febrile illness of infants and children, characterized by cutaneous and mucosal erythema and edema with subsequent desquamation, cervical lymphadenitis, and complicated by coronary artery aneurysms (20%); associated with antiendothelial antibodies

KAYSER-FLEISCHER RINGS a greenish yellow pigmented ring encircling the cornea just within the corneoscleral margin, seen in hepatolenticular degeneration, due to copper deposited in Desçemet's membrane (posterior limiting layer of cornea); seen in Wilson's disease (with neurologic involvement) and other cholestatic hepatic diseases

KEARNS-SAYRE-DAROFF SYNDROME a mitochondrial disease with progressive ophthalmoplegia, retinal pigmentation degeneration, cerebellar ataxia, heart block, and elevated CSF protein

KEHR'S SIGN pain in the left shoulder associated with splenic rupture

KELLY'S SIGN visible peristalsis of the ureter in response to squeezing or retraction; used to identify the ureter during surgery

KENNEDY SYNDROME bulbospinal atrophy; X-linked disease from CAG repeat expansion encoding androgen receptor apparently; leads to distal limb amyotrophy, bulbar signs, androgen insensitivity with gynecomastia, testicular atrophy, and oligospermia

KERCKRING'S VALVES plicae circulares (lining of small intestine)

KERLEY A LINES in pulmonary edema, thin nonbranching lines several inches in length, radiating from hila, and not following the course of vessels or airways, attributed to thickening of connective tissue sheets which contain communicating perivenous and bronchoarterial lymphatics

KERLEY B LINES in pulmonary edema, transverse lines 1-3 cm in length and 1-2 mm in width, arranged in a horizontal stepladder pattern, 0.5-1 cm apart along the lower lateral lung margins, extending to the pleura; lines visible in this area because pulmonary lobules are well-developed in this area and lines reflect thickening of, or fluid in, lymphatic vessels in interlobular septa; also seen in lymphangitic spread of malignancies.

KERLEY C LINES in pulmonary edema, fine interlacing lines throughout the lung base producing a spider web appearance; controversial if unique lines v. crossing lines

KERNIG SIGN flex patient's leg at both hip and knee, and then straighten knee; positive sign–pain and increased resistance to extending knee → suggests meningeal irritation

KERNOHAN NOTCH focal impression against the cerebral peduncle, pressure against notch in uncal herniation

KESHAN DISEASE endemic cardiomyopathy in China associated with selenium deficiency

KIESSELBACH'S PLEXUS vascular plexus on the anterior nasal septum, bleeding from, leads to most common form of epistaxis

KIKUCHI'S DISEASE histiocytic necrotizing lymphadenitis, characterized by cervical lymphadenopathy with tenderness, fever, and night sweats

KILLIP CLASS described in 1967, in myocardial infarction, I, no heart failure, 0.5% mortality; II, S3 and/or basal lung crepitations, 2.2% mortality; III, acute pulmonary edema, 19.2% mortality; IV, cardiogenic shock, 61.3% mortality (mortality rates current)

KIMMELSTIEL-WILSON DISEASE intercapillary glomerulosclerosis from diabetes; lesion is PAS-positive material deposited at periphery of glomerular tufts

KIMURA'S DISEASE large subcutaneous masses on head or neck of Asian males associated with eosinophilia

KLATSKIN TUMORS tumors arising from the part of the common bile duct between the cystic duct junction and the confluence of the right and left hepatic ducts at the liver hilus; notable for their slow growing behavior, marked sclerosing characteristics, and the infrequent occurrence of distal metastases

KLEIHAUER-BETKE TEST testing for the presence of fetal blood cells in maternal circ

KLEINE-LEVIN SYNDROME a rare form of periodic hypersomnia, occurring in males aged 10 to 25 years, characterized by periods of ravenous binge eating alternating with prolonged sleep (as long as 18 hours), along with behavioral disturbances, impaired thought processes, and hallucinations; acute illness or fatigue may precede an episode, which may occur as often as several times a year; thought to be a disorder of hypothalamically mediated satiety

KLIPPEL-FEIL SYNDROME congenital fusion of two or more cervical vertebrae, producing a low posterior hairline, decreased movement, and a short neck that displaces the head anteriorly and inferiorly

KLUMPKE'S PALSY lower plexus palsy affecting C8-T1 nerve roots

KLÜVER-BUCY SYNDROME 1937 bilateral removal of temporal lobe (including amygdala and hippocampal formation) in monkeys, animals became tame, showed a flattening of emotions, exhibited remarkable oral tendencies (they put all manner of objects into their mouths), enormous increase in sexual behavior, including mounting of inappropriate objects and species, compulsive tendency to react to every object, failed to recognize familiar objects

KNIEST DYSPLASIA autosomal dominant metatropic dwarfism associated with mutation in COL2A1

KOCH'S POSTULATES criteria for linking a specific microorganism to a disease 1. organism must be found in lesion of disease; 2. organism can be isolated in single colonies on a single medium; 3. inoculation of culture causes lesion in experimental animals; 4. organism can be recovered from lesions in these animals

KOCHER'S INCISION right subcostal incision for open cholecystectomy

KOCHER'S MANEUVER dissection of the duodenum from the right-sided peritoneal attachment to allow mobilization and visualization of the back of the duodenum/pancreas

KOEBNER'S PHENOMENON referring to physical trauma (rubbing or scratching) as a major factor in eliciting psoriasis lesions; also depigmented, sharply demarcated papules in vitiligo following minor trauma; may also be seen in lichen planus

KOEPPE'S NODULES projections into the pupil seen in sarcoidosis, tuberculosis, and other veitides

KÖHLER'S BONE DISEASE aseptic necrosis of the navicular bone

KOHN, PORES OF connections between alveoli

KOILOCYTE characteristic cytoplasmic vacuole, hallmark of infection by papillomavirus

KOPLIK'S SPOTS pathognomonic exanthem in measles

KOROTKOFF SOUNDS sounds heard in between systolic and diastolic pressure; origin related to the spurt of blood passing under the cuff and meeting a static column of blood

KORSAKOFF'S SYNDROME profound memory loss; mammillary bodies as well as portions of medial thalamus believed to be destroyed from thiamine deficiency accompanying alcoholism

KOSTMANN SYNDROME inherited neutropenia, responds to G-CSF, may be due to environmental insults in bone marrow, characterized typically by a granulopoeisis impairment at the promyelocyte stage

KRABBE'S DISEASE AR sphingolipidosis (sulfatidose), from beta-galactosidase deficiency, resulting in increased galactocerebrosides, mental retardation, blindness, deafness, paralysis, convulsions, total absence of myelin, globoid bodies in white matter of brain, fatal in early life

KRAUSE'S END-BULBS sensory receptors for cold

KRUKENBERG'S TUMOR metastatic GI neoplasia to the ovaries, produces bilateral metastases of mucin-producing, signet-ring cancer cells, most often of gastric origin

KÜBLER-ROSS DYING STAGES 1. denial and isolation, 2. anger, 3. bargaining, 4. depression, 5. acceptance; described in 1969 by Elisabeth Kübler-Ross

KUGELBERG-WELANDER DISEASE juvenile spinal muscular atrophy, hereditary or sporadic, affects proximal limbs, gradually progressive

KULCHITSKY'S CELLS neuroendocrine argentaffin cells present along the bronchial epithelium, particularly in the fetus and neonate; small cell carcinoma has granules similar to Kulchitsky's cells; origin of carcinoid tumors

KUPFFER CELLS phagocytic cells of the mononuclear phagocyte series found on the luminal surface of endothelial cells in hepatic sinusoids; they metabolize old RBCs, digest hemoglobin

KUSSMAUL'S RESPIRATION hyperpnea, associated with acidosis, especially DKA but also in uremia

KUSSMAUL'S SIGN in constrictive pericarditis, jugular vein becomes more distended during inspiration (normally, jugular venous pressure decreases with inspiration since blood drains into heart with inspiration); though most common contemporary cause is severe right-sided heart failure (JAMA 1996: 275:632); generally negative in cardiac tamponade

KUSSMAUL-MAIER DISEASE old name for polyarteritis nodosa

KVEIM-SILTZBACH TEST an intradermal test for the detection of sarcoidosis, done by injecting Kveim antigen (a saline suspension of human sarcoid tissue prepared from the spleen of an individual with active sarcoidosis) and examining skin biopsies after 3 and 6 weeks; positive test, a noncaseating granulomatous reaction; sensitivity 35-88%, specificity 75-99% Morton A. Kveim, Norwegian dermatologist, born 1892

QUECKENSTEDT'S MANEUVER applying pressure on the internal jugular vein to dilate cranial veins and increase incranial pressure; can be used to see if there's block in CSF flow by at lumbar puncture pressures in response

QUELLUNG REACTION swelling of bacterial capsule when exposed to antibody; used for diagnosis of S. pneumoniae, H. influ type B, N. meningitidis groups A and C

QUEYRAT, ERYTHROPLASIA OF carcinoma in situ or invasive squamous cell cancer of the penile glans described by Auguste Queyrat, French dermatologist, born 1872

QUINCKE'S SIGN in aortic regurgitation, capillary pulsations detected by pressing a glass slide on the patient's lip or by transmitting a light through the patient's fingertips; of questionable utility since seen in normal people

GAISBÖCK'S SYNDROME stress polycythemia, combination of modest elevation in hematocrit and normal red cell mass; unknown etiology, seen in hard-driving middle-aged males, usually smokers, who in addition tend to be overweight and hypertensive

GALEAZZI FRACTURE fracture of the radius at the junction of the middle and distal thirds accompanied by disruption of the distal radioulnar joint

GALEN, GREAT VEIN OF great cerebral vein

GALLAVARDIN DISSOCIATION in AS, high-velocity jet within the aortic root results in radiation of murmur upward to 2nd right intercostal space (in older patients, becomes harsh, noisy, and impure), whereas the murmur over apex is pure and often musical, mimicking mitral regurgitation.

GAMEKEEPER'S THUMB injury to ulnar collateral ligament of the thumb

GANDY-GAMNA NODULES in congestive splenomegaly, organization of focal hemorrhages giving rise to foci of fibrosis containing deposits of iron and calcium salts encrusted on connective tissue and elastic fibers

GARDNER'S SYNDROME familial adenomatous polyposis (now realized all patients with FAP have extraintestinal manifestations), exhibiting intestinal polyps identical to those in FAP combined with 1. sebaceous cysts, 2. osteomas (particularly of the mandible, skull, and long bones), 3. desmoid tumors; mutation in adenomatous polyposis coli (APC) gene in 5q

GARDOS CHANNEL potassium-selective channel controlled by cytosolic calcium concentrations, one of two channels involved in red cell shrinkage playing a role in sickling; local tissue acidosis and deoxygenation-induced influx of calcium activate the Gardos channel resulting in shrinkage; clotrimazole potent blocker of this channel

GARR, SCLEROSING OSTEOMYELITIS OF typically develops in the jaw, associated with extensive new bone formation that obscures much of the underlying osseous structure

GASTRINOMA TRIANGLE a triangle where more than 90% of extrapancreatic gastrinomas are located bordered by 1. 3rd portion of duodenum, 2. Cystic duct, 3. Pancreatic neck

GAUCHER'S DISEASE AR sphingolipidosis (sulfatidose), mutations in glucocerebrosidase gene on 1q21, enzyme cleaves glucose residue from ceramide, frequently fatal; type I, chronic non-neuronopathic form, splenic and skeletal involvement

GERALDI, FOSSA OF name of the fossa between the testicle and epididymus

GERHARD'S SIGN in aortic regurgitation, pulsation of the spleen in the presence of splenomegaly

GEROTA'S FASCIA fascia surrounding the kidney

GERSTMANN SYNDROME finger agnosia, agraphia, right-left disorientation, and dyscalculia

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME slow central nervous system disease, hereditary as well as transmissible prion disease with same mutation, point mutation in codon 102 of prion protein as CJD; characterized by cerebellar dysfunction with multiple plaques

GHON LESION primary area of tuberculosis infection

GIBBS-DONNAN EQUILIBRIUM in RBCs, bicarbonate ions diffusing out and chloride diffusing in

GILBERT'S SYNDROME with the exception of hemolytic anemias, most common cause of mild unconjugated hyperbilirubinemia from mild decrease glucoronyltransferase activity, responds to phenobarbital, affects up to 7% of population

GITELMAN'S SYNDROME variant of Bartter's syndrome where patients have hypomagnesemia and hypocalciuria due to mutations in thiazide-sensitive sodium-chloride transporter

GLANZMANN'S THROMBASTHENIA Gp IIb/IIIa receptor for fibrinogen missing

GLAUBER'S SALT sodium sulfate, laxative

GLEASON SCORE prostate cancers stratified into 5 grades on basis of glandular patterns and degree of differentiation; grade 1 most differentiated and grade 5 no glandular differentiation; two grades added together for score; therefore most differentiated tumor score of 2

GLEICH SYNDROME episodic angioedema with eosinophilia characterzed by recurrent episodes of angioedema, urticaria, pruritus, fever, weight gain, elevated IgM, leukocytosis, and marked eosinophilia; blood eosinophilia parallels disease activity (N Engl J Med 1984;310:1621

GLEICH SYNDROME recurrent angioedema, urticaria, fever, weight gain and blood hypereosinophilia, elevated serum IgM, benign course without involvement of the internal organs

GLISSON'S CAPSULE liver capsule

GLYCOGEN STORAGE DISEASES type I, von Gierke's disease; type II, Pompe's disease; type III, Cori's disease; type V, McAdle's syndrome

GOETZ SIGN in PDA, jet of unopacified blood from aorta into opacified blood of pulmonary artery

GOLDIE-COLDMAN HYPOTHESIS malignant cells likely to acquire spontaneous resistance to cytotoxic drugs as they progressively grow and divide, even without any exposure to those drugs

GONDA'S MANEUVER extensor plant response by flicking the little toe suggesting upper motor neuron defect

GOOD'S SYNDROME immunodeficiency associated with thymoma

GOODELL'S SIGN softening of cervix associated with pregnancy that occurs at around 8th week

GOODPASTURE'S SYNDROME glomerulonephritis characterized by linear deposits of antibody along the glomerular basement membrane, antibodies interact with alveolar wall, leads to pulmonary hemorrhage and pulmonary fibrosis; Goodpasture antigen, resides in the noncollagenous portion of the alpha3 chain of collagen type IV; high prevalence of DRW15/DQW6, also see iron-deficiency anemia

GOODSALL'S RULE anal fistulae course in a straight path anteriorly and take a curved path posteriorly

GORDON'S MANEUVER extensor plant response by squeezing the calf muscle suggesting upper motor neuron defect

GORDON'S SYNDROME type 2 pseudohypoaldosteronism associated with volume expansion, hypertension, and otherwise normal renal function; felt be to be due to enhanced distal chloride reabsorption

GORHAM-STOUT DISEASE vanishing or disappearing bone disease; IL-6 has pathogenetic role

GOTTRON'S PAPULES violaceous papules over knuckle prominences found in dermatomyositis

GOWER'S MANEUVER Duchenne's muscular dystrophy, patient using hands to help himself get up

GRADENIGO'S SYNDROME thrombosis of inferior petrosal sinus producing ipsilateral facial pain, lateral rectus muscle weakness

GRAHAM STEELL MURMUR early diastolic murmur of pulmonic regurgitation secondary to pulmonary hypertension, best heard in left 2nd interspace, may be indistinguishable from murmur of aortic regurgation. occurs in 12% of patients with tricuspid regurgiation.

GRAVES'S DISEASE hyperthyroidism with diffuse goiter, ophthalmopathy, dermopathy from thyroid-stimulating Ig

GREIG CEPHALOPOLYDACTYLY SYNDROME rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet from mutation in GLI3

GREY TURNER'S SIGN local areas of discoloration about the umbilicus and particularly in the region of the loins, in acute hemorrhagic pancreatitis (1-2%) and other causes of retroperitoneal hemorrhage

GRIFFITH'S SIGN in thyrotoxicosis, lag of the lower lids during elevation of the globes

GROTTON'S LESIONS in dermatomyositis, scaling erythematous eruption or dark red patches over the knuckles, elbows, knees

GUAM DISEASE Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin found in cycad plant eaten by Chamorro people, toxin believed to be excitotoxin beta-N-methylamino-L-alanine, a low-potency convulsant Science 1987;237:517-22

GUILLAIN-BARRÉ SYNDROME acute idiopathic polyneuropathy following minor infective illnesses, inoculations, or surgical procedures (suggested association with C. jejuni) resulting in immunologically-mediated demyelination and leading to progressive weakness

GUNN'S SIGN tapering of veins on either side of AV crossing in hypertensive retinopathy (grade 3); c.f. Salus's sign and Bonnet's sign

GUNTHER'S DISEASE AR congenital erythropoietic porphyria from decreased URO synthase activity, hemolytic anemia, cutaneous lesions

GUTHRIE TEST for diagnosis of PKU, a bacterial assay for phenylalanine

CABOT RING in asplenia or malfunctional spleen, nuclear remnants on red blood cells as a thin, darkly-stained ring that follows the margin of the red cell

CABRERA'S SIGN notching at 0.05s in ascending limb of S wave in V3, V4; 27% sens for MI

CADASIL cerebral autosomal dominant arteropathy with subcortical infarcts and leukoencephalopathy, rare hereditary cause of stroke that may involve Notch3 gene characterized by recurrent strokes (usually infarcts) and dementia

CAISSON DISEASE decompression sickness

CALL-EXNER BODIES in granulosa cell tumors, small follicles filled with eosinophilic secretion; an important diagnostic feature

CALOT'S TRIANGLE the area bordered by the 1. cystic duct, 2. common hepatic duct, 3. lower edge of the liver; cystic artery, sometimes hepatic artery found here

CAMPBELL DE MORGAN SPOTS cherry angioma

CAMPBELL DIAGRAM used to determine the work of breathing, including the effects of chest wall compliance, lung compliance, and airway resistance

CANALE-SMITH SYNDROME childhood disorder, first described in 1967, characterized by lymphadenopathy and autoimmunity; associated with mutations in Fas; implicates gene in accumulation of lymphocytes and the autoimmunity characteristic of the syndrome

CANAVAN DISEASE autosomal recessive infantile spongy degeneration of the brain with Alzheimer type II cells, increased prevalence among Ashkenazi from mutation in aspartoacylase leading to increased levels of N-acetylaspartic acid, described in 1931

CANTLIE'S LINE separates the right and left lobes of the liver–a line drawn from the IVC to just left of the gallbladder fossa

CANTRELL, PENTALOGY OF Diaphragmatic defect (hernia), Cardiac abnormality, Omphalocele, Pericardium malformation/absence, Sternal cleft

CAPGRAS SYNDROME delusional belief that one or a few highly familiar people have been replaced by impostors who are physically very similar to the original/s; seen rarely in schizophrenia.

CAPLAN'S SYNDROME coexistence of rheumatoid arthritis with a pneumoconiosis, leading to the development of distinctive pulmonary lesions that develop fairly rapidly; these nodular lesions have central necrosis surrounded by fibroblasts, macrophages, and collagen; can occur in asbestosis and silicosis

CARCINOID TRIAD 1. flushing, 2. diarrhea, 3. right-sided heart failure (also bronchospasm)

CAREY COOMBS MURMUR a blubbering apical mid diastolic murmur occurring in the acute stages of rheumatic mitral valvulitis and disappearing as the valvulitis subsides; Carey Coombs, English physician, 1879-1932

CARNETT'S TEST head raise, tenderness persists in abdominal wall condition (rectus hematoma) whereas pain due to intraperitoneal disease lessens

CARNEY SYNDROME AD complex cardiac myxomas, aggressive biologic behavior, spotty pigmentation, issue with endocrine tumors (causing e.g., Cushing syndrome)

CAROLI'S DISEASE larger ducts of the intrahepatic biliary tree are segmentally dilated and may contain inspissated bile; pure forms are rare; this disease is usually associated with portal tract fibrosis of the congenital hepatic fibrosis type

CARRIÓN'S DISEASE see Oroya fever

CARVALLO'S SIGN in tricuspid regurgitation, murmur increases with inspiration

CASTLE INTRINSIC FACTOR intrinsic factor secreted by parietal cells, which binds luminal B12 and permits its absorption in the ileum

CASTLEMAN'S DISEASE benign lymphoproliferative disorder, characterized by hyperplastic lymphoid follicles with capillary proliferation

CAT-SCRATCH DISEASE tender regional lymphadenopathy persisting for 3 weeks or longer, frequently preceded by primary skin lesion after contact with kits, appears to be caused by Bartonella (formerly Rochalimaea) henslae, a small, pleomorphic gram-negative bacillus

CHADDOCK'S SIGN involuntary dorsiflexion of the toes when tapping from the lateral malleolus distally to the lateral dorsum of the foot in upper motor neuron defect

CHADWICK'S SIGN blue-red passive hyperemia of the cervix that may appear after 7th week of pregnancy; may be seen in association with tumor; results from congestion of mucosa and most visible in anterior vaginal wall

CHAGAS'S DISEASE zoonosis caused by protozoan parasite Trypanosoma cruzi; causes destruction of the myenteric plexus of the esophagus, duodenum, colon, and ureter, with resultant dilatation of these structures as well as cardiac disease; transmitted by excreta of hematophagous organisms of the family Reduiviidae

CHAPMAN'S SIGN notching of ascending limb of R in I, aVL, or V6

CHARCOT'S DISEASE French eponym for ALS

CHARCOT'S JOINTS neurogenic joint degeneration, can be secondary to syphilis, peripheral neuropathy

CHARCOT'S TRIAD in multiple sclerosis, nystagmus, intention tremor, and staccato speech (or scanning speech)

CHARCOT'S TRIAD in 70% of patients with bacterial cholangitis, right-upper-quadrant pain, jaundice, and fever; c.f. Reynold's pentad

CHARCOT-BOUCHARD ANEURYSMS minute brain aneurysms from chronic hypertension, occurring in vessels less than 300 microns in diameter (different from saccular aneurysms), most commonly found within basal ganglia

CHARCOT-LEYDEN'S CRYSTALS crystals in the shape of elongated double pyramids, formed from eosinophils (from lysophospholipase), found in the sputum in bronchial asthma and in other exudates or transudates containing eosinophils

CHARCOT-MARIE-TOOTH DISEASE most common inherited peripheral neuropathy, 1/2500, AD, clinically heterogeneous disorder characterized by slowly progressive atrophy of the distal muscles, mainly those innervated by peroneal nerve; progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus, clawhand, and stork-leg appearance, usually beginning in the 2nd or 3rd decade. Enlarged greater auricular nerves may be visible and enlarged ulnar and peroneal nerves may be palpated in some patients. Cranial nerves rarely involved

CHARGE ASSOCATION coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness

CHARLES BONNET SYNDROME visual deprivation hallucinations

CHARLIN'S SYNDROME OF NEURALGIA severe pain in the inner corner of the eye disproportionate to the degree of ocular inflammation, pain in the root of the nose, tearing, and ipsilateral nasal watery discharge believed to be due to irritation of the ciliary ganglion

CHÉDIAK-HIGASHI SYNDROME autosomal recessive disorder, neutropenia, defective degranulation, and delayed microbial killing. Neutrophils and other leukocytes have giant granules (can be seen on blood smears). Effect of microtubule polymerization causes delayed or decreased fusion of lysosomes with phagosomes in leukocytes and thus impairs phagocytosis of bacteria

CHEYNE-STOKES BREATHING regularly irregular pattern characterized by a progressive increase in the depth and at times frequency of respiration with a crescendo-decrescendo shape that eventually culminates in an apneic phase; seen in CHF but also in meningitis, CVA, pontine damage

CHILAIDITI SYNDROME when redundant loops of transverse colon slip between the liver and diaphragm and cause vovulus

CHRISTMAS DISEASE hemophilia B, deficiency in factor IX

CHURG-STRAUSS SYNDROME allergic angiitis and granulomatosis involvement in the lung, associated with eosinophilia; asthma is the cardinal feature (occurs in 95%) and precedes vasculitic phase by 8-10 years; 2/3 of patients have skin lesions which can appear as s.c. nodules on extensor surfaces; 70% have P-ANCA; 4/6 following criteria 85% sens and 99.7% spec: asthma; eosinophilia>10%; neuropathy; pulmonary opacities; paranasal sinus abnormality; biopsy of blood vessel showing eosinophils in extravascular area

CHVOSTEK'S SIGN hypocalcemia, in latent tetany, tapping the facial nerve against the bone just anterior to the ear producing ipsilateral contraction of facial muscles

CIVATTE BODIES aka colloid bodies; in lichen planus; anucleate, necrotic basal cells becoming incorporated into the inflamed papillary epidermis

CLARA CELLS cells found in the epithelium of terminal and respiratory bronchioles, devoid of cilia, present secretory granules in their apex and are known to secrete glycosoaminoglycans that probably protect the bronchiolar lining

CLAUDE'S SYNDROME third nerve palsy combined with contralateral ataxia with midbrain infarction and injury to both red nucleus and superior cerebellar peduncle (includes signs of both Nothnagel's and Benedikt's syndrome)

CLAY SHOVELER'S FRACTURE fracture of spinous process of C7

CLUTTON'S JOINTS in congenital syphilis, symmetrical arthrosis, especially of the knee joints

COCKAYNE'S SYNDROME dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation; autosomal recessive inheritance defect in DNA repair?

COCKCROFT-GAULT FORMULA for calculating clearance based on creatinine, age, etc.

CODMAN'S TRIANGLE in osteosarcoma, the triangular shadow between the cortex and raised ends of periosteum is known radiographically as Codman's triangle, and is characteristic but not diagnostic of this tumor

COGAN SYNDROME multisystem inflammatory vascular disease particularly of the CNS characterized by interstitial keratitis, vestibuloauditory symptoms

COLLES'S FRACTURE a fracture of the distal radius that occurs when persons fall with outstretched hands to try to catch themselves

COLLIER'S SIGN lid retraction in lesion of posterior commissure

CONJOINT TENDON aponeurotic attachments of the transversus abdominis to the pubic tubercle (the classic conjoining of the aponeurosis of the internal oblique and transversus aponeurosis <4%)

CONN'S SYNDROME primary hyperaldosteronism, caused by an aldosterone-secreting tumor, resulting in hypertension, hypokalemia, hypernatremia, metabolic alkalosis, and low plasma renin

COOLEY'S ANEMIA homozygous beta thalassemia; Mediterranean anemia

COOMBS TEST direct, ability of anti-IgG or anti-C3 antisera to agglutinate the patient's red blood cells; cold reacting antibodies react with anti-C3 (mostly drug-related antibodies, IgM antibodies (generally to polysaccharide), IgG antibodies of low affinity); indirect Coombs, serum of the patient is incubated with normal red cells, though IgM antibodies may agglutinate directly

COOPER'S HERNIA hernia through the femoral canal and tracking into the scrotum or labia majus

CORI'S DISEASE glycogen storage disease type III, deficiency in debranching enzyme, amylo-1,6-glucosidase, leading to variable accumulation of glycogen in the liver, heart, or skeletal muscle, characterized by stunted growth, hepatomegaly, and hypoglycemia

CORRIGAN'S PULSE in aortic regurgitation, pulses are of the water-hammer or collapsing type with abrupt distension and quick collapse, can be exaggerated by raising the patient's arm

COSTEN'S SYNDROME ear pain, tinnitus, impaired hearing, and dizziness from temporomandibular joint dysfunction

COUNCILMAN BODIES in apoptosis, hepatocytes that round up to form shrunken, pyknotic, and intensely eosinophilic bodies

COURVOISIER'S LAW tumors that obstruct the common bile duct result in an enlarged bladder; obstructing stones do not, since the gallbladder is typically too scarred to allow enlargement; present in half of pancreatic CA

COWDEN DISEASE autosomal dominant condition associated with multiple hamartomatous lesions, especially of the skin, mucuous membranes, GI tract, breast and thyroid; associated with mutations in PTEN/MMAC1

CREUTZFELD-JAKOB DISEASE fatal transmissible disorder of the CNS characterized by rapidly progressive dementia and variable focal involvement of the cerebral cortex, basal ganglia, cerebellum, brainstem, and spinal cord, attributable to prions, characterized by myoclonus often induced by a startle, extrapyramidal signs, cerebellar signs; slowing and periodic complexes on EEG; 1 per 167,000 in U.S.; fatal within 1 year after onset of symptoms

CRI DU CHAT 5p-, severe mental retardation, microcephaly, catlike cry, low birth weight, hypertelorism, low-set ears, and epicanthal folds

CRIGLER-NAJJAR SYNDROME type I, no hepatic glucoronyltransferase activity, kernicterus, requires liver transplantation; type II, moderate deficiency of glucoronyltransferase, phenobarb induces activity

CRONKHITE-CANADA SYNDROME diffuse GI hamartoma polyps (i.e., no cancer potential) associated with malabsorption/weight loss, diarrhea and loss of electrolytes/protein; signs include alopecia, nail atrophy, and skin pigmentation

CROUZON SYNDROME craniosynostosis correlated in mutations with the extracellular domain of FGFR2

CRUVEIHILER-BAUMGARTEN BRUIT bruit heard over caput medusa in portal hypertension

CULLEN'S SIGN a faintly blue coloration particularly of umbilicus as the result of retroperitoneal bleeding from any cause, but especially in ruptured ectopic pregnancy; also seen in acute pancreatitis (1-2%)

CURLING'S ULCERS stress erosions and ulcers occurring in the proximal duodenum and associated with severe burns or trauma, from ischemia of the gastric mucosa

CURSCHMANN'S SPIRALS spirally twisted masses of mucus plugs containing whirls of shed epithelium occurring in the sputum in bronchial asthma; Heinrich Curschmann, German physician, 1846-1910

CUSHING REACTION increase in intracranial pressure causes compression of the cerebral blood vessels and cerebral ischemia, reaction of elevation in pressure with simultaneous reduction in heart rate, respiratory slowing

CUSHING'S DISEASE hypercortisolism from pituitary corticotropin-(ACTH)-secreting corticotroph tumors, almost always benign and usually microadenomas

CUSHING'S SYNDROME hypercortisolism

CUSHING'S TRIAD signs of increased ICP 1. hypertension 2. bradycardia 3. irregular respirations

CUSHING'S ULCER acute ulcer of the stomach, proximal duodenum, or esophagus, frequently leads to hemorrhage or perforation, associated with intracranial injury or increases in intracranial pressure, associated with gastric acid hypersecretion

JACCOUD'S ARTHRITIS in SLE, ulnar deviation of the fingers, swan neck deformities, and subluxations, initially reversible since not joint porlbem per se but can become fixed over time

JACKSONIAN MARCH in simple partial seizures, clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex

JACKSON-WEISS SYNDROME craniosynostoses as well as limb defects, mutations if FGFR2, broad great toes

JANEWAY LESIONS in infective endocarditis; nonpainful, small, erythematous or hemorrhagic macules or nodules of palms or soles; more common in acute bacterial endocarditis but occur in subacute bacterial endocarditis

JANSEN METAPHYSEAL CHONDRODYSPLASIA an autosomal dominant form of dwarfism resulting from an activating mutation in the PTHrP receptor, premature ossification from acceleration of the transition from proliferative to hypertrophic chondrocytes

JARISCH-HERXHEIMER REACTION sudden fevers, rigors, and persistent hypotension following antimicrobial treatment of louse-borne relapsing fever (spirochete Borrelia recurrentis infection) or syphilis; treatment with anti-TNF-? Fab before penicillin suppresses this reaction (NEJM 335:311)

JENDRASSIK MANEUVER for increasing sensitivity of deep tendon reflexes, have patient clasp hands together or grab wrists tightly while checking reflexes

JOB'S SYNDROME immune deficiency where neutrophils fail to respond to chemotactic stimuli, associated with high levels of IgE; patients susceptible to cold staphylococcal abscesses

JOD-BASEDOW PHENOMENON thyroid hyperfunction induced by excess iodine ingestion in patients with various thyroid disorders; Jod German for iodine; K. A. Von Basedow

JOFFROY SIGN in thyrotoxicosis, absence of forehead wrinkling with upward gaze, the head being tilted down; disorder of the arithmetic faculty in the early stages of organic brain disease

JOHN THOMAS SIGN positive sign when penis inclined to side of the disorder radiographically (e.g., fractured hip); 70% sens 67% specific for JT sign in hip fracture, Med J. Aust. 1998;169:670

JOLLY TEST good test for distinguishing between Lambert-Eton syndrome and myasthenia gravis. Friedrich Jolly, German neurologist, 1844-1904

JONES CRITERIA for diagnosing rheumatic fever, major criteria: carditis, polyarthritis, chorea, erythema marginatum, and subcutaneous nodules. minor criteria: arthralgia, fever, elevated ESR, CRP, prolonged PR. in setting of antecedent GAS infection, two major or one major and 2 minor suggests RF. throat cultures negative by the time rheumatic fever appears

JONES'S FRACTURE fracture at the base of the fifth metatarsal diaphysis

ZAHN, INFARCT OF in occlusion of an intrahepatic branch of portal vein, sharply demarcated area of red-blue discoloration, not infarct, not necrosis, only marked stasis in distended sinusoids, with secondary hepatocellular atrophy

ZAHN, LINES OF thrombi formed within a cardiac chamber or the aorta, may have apparent laminations, produced by alternating layers of paler platelets admixed with some fibrin, separated by darker layers containing more red cells

ZENKER'S DIVERTICULUM a pharyngeal diverticulum from premature contraction of the cricopharyngeus muscle on swallowing, leads to progressive UES narrowing, leading to a posteriorly directed hypopharynx; causes progressive food stasis and dysphagia

ZOLLINGER-ELLISON SYNDROME hallmark, circulating hypergastrinemia; gastric acid hypersecretion and severe peptic ulcer diathesis secondary to unbridled release of gastrin from a gastrinoma; associated with peptic ulcers and diarrhea; 60% malignant, only 20% resectable; 25% of gastrinoma patients have MEN I; >80% of gastrinomas found in gastrinoma triangle

TAKAYASU'S DISEASE aortic arch syndrome, pulseless disease; panartertis of the great vessels that's most common in Asian women

TAMM HORSFALL PROTEIN uromodulin, major component of renal casts; 30-50 mg secreted per day by cells in thick ascending limb; homologous to GP2, a protein secreted from the acinar cell and a major component of plugs in noncalcific chronic pancreatitis

TANGIER DISEASE rare recessive disease characterized by enlarged orange tonsils, peripheral neuropathy affecting small fibers involved in in pain and temperature, and a near-complete absence of HDL-cholesterol; ABC1, the ATP binding-cassette transporter 1 gene, mutated in TD; gene mediates efflux of cholesterol from cells

TAY-SACHS DISEASE autosomal recessive sphingolipidosis; GM2 gangliosidosis, results from mutations that affect chr15 and cause a severe deficiency in beta hexosaminidase A; blindness and cherry-red spot (c.f. Sandhoff's disease with similar symptoms where both beta hexosaminidase A and B)

TERRY'S NAILS mostly whitish with a distal band of reddish brown; may be seen with aging and in people with chronic diseases such as cirrhosis of the liver, congestive heart failure, and non-insulin-dependent diabetes; seen in 10% of uremics

TERSON'S SYNDROME intra-vitreous hemorrhage associated with subarachnoid hemorrhage

THOMPSON'S TEST verifies if gastroc-soleus complex intact; squeeze calf belly, foot should plantar flex

THOMSEN'S DISEASE myotonia congenita, autosomal dominant

THOMSEN-FRIEDENREICH ANTIGEN cryptic antigen in membranes of erythrocytes, platelets, and glomerular capillary endothelial cells exposed by S. pneumoniae-derived neuraminidase removal of sialic acid

THOREL'S PATHWAY posterior internodal tract in atrial conduction system

THUMB SIGN in Marfan's disease, Ehlers-Danlos syndrome, and similar syndromes, thumb protrudes from clenched fist

TIETZE SYNDROME discomfort localized in swelling of the costochondral and costosternal joints, which are painful on palpation; may be perceived as breast pain

TINEL'S SIGN a sensation of tingling or pins and needles felt in distal extremity when percussion is made over the site of an injured nerve; it indicates a partial lesion or early regeneration of the nerve; 60% sens, 67% spec

TODD'S PARALYSIS transient hemiparesis in postictal period, resolves over a period of 0.5-360 hours, suggests focal brain lesion as cause

TOLDT, WHITE LINES OF the peritoneal reflections of the ascending and descending colon

TOLOSA-HUNT SYNDROME idiopathic inflammation of the cavernous sinus producing painful palsy of third, fourth, or sixth cranial nerve

TOURETTE'S SYNDROME chronic multiple motor and verbal tics, symptoms typically begin before 21 y.o., first signs motor tics in 80% and vocal tics in 20% but eventually both motor and vocal; higher than expected number of left-handedness and ambidexterity; 40-50% involve self-mutilation such as nail-biting, hair-pulling, etc.

TOWNE'S VIEW AP view with the X ray tube angled caudad to show the occipital bone

TRAUBE'S SIGN in aortic regurgitation “pistol shot sounds” referring to booming systolic and diastolic sounds over the femoral artery

TRAUBE'S SPACE a crescentic space about 12 cm wide, bounded medially by the left border of the sternum, above by an oblique line from the 6th costal cartilage to the lower border of the 8th or 9th rib in the mid-axillary line and below by the costal margin; the percussion tone here is normally tympanitic, because of the underlying stomach, but is modified by pulmonary emphysema, a pleural effusion, or an enlarged spleen

TREACHER COLLINS SYNDROME first arch syndrome, mandibulofacial dysplasia, caused by AD gene, resulting in malar hypoplasia with down-slanting palpebral fissures, defects in the lower eyelids, deformed external ears, and sometimes abnormalities of the middle and internal ears

TRENDELENBURG'S GAIT waddling gait in people with weakness or paresis of gluteal muscles; seen in progressive muscular dystrophy

TRENDELENBURG'S SIGN sign of weakness of gluteus medius muscle seen as when standing on one leg, failure to elevate contralateral side of pelvis; may be due to congenital dislocation of hip, trochanteric fracture, polio, spinal nerve root lesions with muscular atrophy

TRIETZ, LIGAMENT OF the suspensory muscle of the duodenum which supports the duodenojejunal flexure

TROUSSEAU'S SIGN in hypocalcemia and latent tetany, carpal spasm induced by occluding the brachial artery for 3 min with an inflated BP cuff

TROUSSEAU'S SYNDROME migratory thrombophlebitis, may be encountered with deep-seated cancers, most often with carcinomas of the pancreas or lung

TULLIO'S PHENOMENON induction of vertigo by loud noises, i.e. sound-induced vestibular activation

TURCOT'S SYNDROME rare variant of familial adenomatous polyposis, with combination of adenomatous colonic polyposis and tumors of the CNS, mostly gliblastoma multiforme

TURNER'S SYNDROME females with XO, short, low-set ears, shield chest, congenital heart defect (usually coarctation), café-au-lait spots, freckles, webbed neck, lymphedema

TZANCK SMEAR cytologic technique most often used in the diagnosis of herpesvirus infections (simplex or varicella-zoster); multinucleated giant cells suggest the presence of herpes; named after Arnault Tzanck

DA COSTA SYNDROME neurocirculatory asthenia, pain localized typically to the cardiac apex and consists of dull, persistent ache that lasts for hours, etc.

DAHL'S SIGN in COPD, protracted pressure applied by the elbows leads eventually to the formation of two patches of hyperpigmented calluses immediately above the knees

DALRYMPLE SIGN retraction of the upper eyelid in Graves's disease, causing abnormal wideness of the palpebral fissure

DALTONISM color blindness, from John Dalton (who proposed atomic theory), born 1766; felt that color blindness was from vitreous humor being blue, disproved his assistant Joseph Ransome who examined his eyeballs post mortem

DANCE'S SIGN empty right lower quadrant in children with ileocecal intussusception

DANDY-WALKER SYNDROME hydrocephalus resulting from failure of the foramina Luschka and Magendie to open; associated with an occipital meningocele and agenesis of the cerebellar vermis and splenium of the corpus callosum; associated with warfarin use during pregnancy

DANE PARTICLE mature HBV virion, 42 nm, double-layered, genome is double-stranded circular DNA, all regions of genome encode stuff

DARIER'S SIGN in mastocytosis (urticaria pigmentosa), is positive when a brown macular or a slightly papular lesion becomes a palpable wheal after being vigorously rubbed with the blunt end of an instrument such as a pen; wheal may not appear for 5-10 minutes

DARKSCHEWITSCH, NUCLEUS OF an ovoid cell group in the ventral central gray substance rostral to the oculomotor nucleus, receiving fibers from the vestibular nuclei by way of the medial longitudinal fasiculus; projections are not known, although some cross in the posterior commissure

DARWIN'S TUBERCLE completely benign and congenital nodule, located near the superior aspect of the auricle (approximately 2/3 of the way from the bottom of the helix), described by Charles Darwin

DAWSON'S FINGERS in multiple scelrosis, perivascular demyelination creating the appearance of finger projections oriented transversely on an axial scan

DE MUSSET'S SIGN in aortic regurgitation, head bobbing, named after 19th century French poet who had luetic aortic insufficiency

DE QUERVAIN'S DISEASE a stenosing tenosynovitis of the thumb extensors and abductors

DE QUERVAIN'S THYROIDITIS subacute granulomatous thyroiditis, viral etiology suspected

DEJERINE-ROUSSY SYNDROME thalamic lesions causing sensory loss, spontaneous pain, and perverted cutaneous sensation described in 1906

DEJERINE-SOTTAS DISEASE hereditary motor and sensory neuropathy III, recessive inheritance, slowly progressive demyelinating disorer, presents in infancy or childhood and progresses to cause severe disability by 30s; nerves typically enlarged

DENNIE'S LINES in atopic dermatitis, an accentuated line or fold below the margin of the lower eyelid

DENT'S DISEASE X-linked syndrome characterized by renal proximal tubular dysfunction, proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and rickets due to mutation in voltage-gated chloride channel

DENYS-DRASH SYNDROME gonadal dysgenesis (male pseudohermaphroditism) and nephropathy leading to renal failure with increased risk of Wilms's tumor; dominant negative missense mutation of WT-1

DESTOT'S SIGN scrotal hematoma suggesting pelvic fracture

DEVIC'S DISEASE demyelinating disorder common in Asians that presents as transverse myelitis associated with optic neuritis that is typiclaly bilateral

DI GUGLIELMO SYNDROME a non-nutritive megaloblastic anemia in which malignant red cell precursors are particularly evident

DI GUGLIELMO'S DISEASE AML M6, erythroleukemia

DIAMOND-BLACKFAN ANEMIA congenital pure red cell aplasia characterized by increased MCV, reticulocytopenia, bone marrow erythroblastopenia; can be diagnosed by increased erythrocyte adenosine deaminase; 40% associated with congenital abnormalities; associated with RPS19 ribosomal protein mutations in some; responds to steroids which increase Epo sensitivity

DICK TEST injection of erythogenic toxin of Strep. pyogenes, positive result in those lacking antitoxin

DIEULAFOY'S ANEURYSM around 6 cm from the gastroesophageal junction, an uncommon cause of massive GI bleeding, a large submucosal artery erodes the mucosa without any overlying ulceration or other obvious mucosal damage

DIGEORGE SYNDROME failure of 3rd and 4th pharyngeal pouches to differentiate into the thymus and parathyroid glands, facial abnormalities result primarily from abnormal development of the first arch components during formation of face and ears, 22q11 deletion, CATCH-22 (cardiac abnormality/abnormal facies, T-cell deficit owing to thymic hypoplasia, cleft palate, and hypocalcemia)

DIMPLE SIGN in dermatofibroma, lateral compression with thumb and index finger produces a depression, or “dimple.”

DISSE, SPACE OF subendothelial space in liver separating endothelial cells from underdlying hepatocytes which contains hepatocyte microvilli

DIX-HALLPIKE TEST for testing benign paroxysmal positional vertigo, examiner stands at the patient's right side and rotates the patient's head 45 degrees to the right to align the right posterior semicircular canal with the sagital plane of the body; the examiner moves the patient, whose eyes are open, from the seated to the supine right-ear-down position and then extends the patient's neck slightly so that the chin is pointed slightly upward.

DÖHLE BODIES irregularly shaped greenish inclusions in neutrophil cytoplasm, consisting of ribosomes and/or rough ER and are seen in severe bacterial infections

DOI'S SIGN elicitation of diminished deep tendon reflexes after maximal voluntary contraction in Lambert-Eton syndrome

DONATH-LANDSTEINER ANTIBODY in paroxysmal cold hemoglobinuria, an antibody associated with syphilis and viral infections, directed against the P antibody complex and can induce complement-mediated lysis; attacks precipitated by exposure to cold and are associated with hemoglobinemia and hemoglobinuria; chills and fever; back, leg, and abdominal pain; headache and malaise; recovery prompt; asymptomatic otherwise

DONOVAN BODIES in Calymmatobacterium granulomatis or granuloma inguinale, bodies characterized by multiple organisms filling large histiocytes

DOUGLAS, POUCH OF rectouterine pouch

DOWN SYNDROME trisomy 21 (in 95%), 1/700 births, 1% mosaics, 40% have congenital heart disease. trisomy 21, 10-20 fold increased risk of acute leukemia, virtually all older than 40 develop Alzheimer's, abnormal immune system

DRESSLER'S SYNDROME pericarditis, possible autoimmune etiology, found to develop 2 weeks to several months after acute MI

DRUCKREY RELATIONSHIP relationship between carcinogen dose and tumor induction time: dtn = k where d is the dose of carcinogen, t is latency period, n is the slope of the double log [plot of carcinogen dose versus induction time, and k is a constant

DUBIN-JOHNSON SYNDROME mostly conjugated hyperbilirubinemia from defect in transport of bilirubin and other organic anions across the canaliculus; other liver function tests normal; accumulation of dark pigment in liver lysosomes

DUCHENNE'S MUSCULAR DYSTROPHY X-linked, near or complete absence of dystrophin (normally stabilizes glycoprotein complex on cytoplasmic face of plasma membrane of muscle fibers and protects it from degradation), onset of weakness age 2-3, proximal weakness of limb muscles, Gower's maneuver, pseudohypertrophy of calves caused by fatty infiltration, cardiomyopathy, frequently mental retardation, CK elevated, wheelchair bound by age of 12

DUMPING SYNDROME delivery of a large amount of hyperosmolar chyme into the small bowel, usually after vagotomy and a gastric drainage procedure, results in autonomic instability, abdominal pain, and diarrhea

DUNCAN'S DISEASE X-linked lymphoproliferative syndrome, normal response to childhood infections but develop fatal lymphoproliferative disorders after infection with EBV; most patients with this syndrome die of infectious mononucleosis

DUNPHY SIGN increased pain with coughing in appendicitis

DUPUYTREN'S CONTRACTURE palmar fibromatosis

DURANT'S MANEUVER left lateral decubitus position, used in managing air embolism

DURET HEMORRHAGE hemorrhage from uncal herniation

DUROZIEZ'S SIGN in aortic regurgitation, systolic murmur heard over the femoral artery when it is compressed proximally and a diastolic murmur when it is compressed distally

DUTCHER BODIES PAS-positive inclusions containing Ig in the nucleus of lymphocytes, plasma cells, and intermediate plymphocytes in Waldenström macroglobulinemia and multiple myeloma

NÄGELE'S RULE means of estimating date of delivery by counting back 3 months from the first day of the last menstrual period and adding seven days; full term 38 weeks after fertilization, 40 weeks after LNMP

NARDI TEST narcotic-induced stimulation or spasm reproducing the abdominal pain and amylase elevation of relapsing pancreatitis (for inferring sphincteric disease in any pancreatic or biliary ductal system without a gallbladder), presumably accurate in the diagnosis of perisphincteric disease

NAXOS DISEASE initially described on Greek island of Naxos, synrome of arrhythmogenic right ventricular cardiomyopathy, non-epidermolytic palmoplantar keratoderma, and woolly hair, due to deletion in plakoglobin, a constituent protein in adherens and desmosomal junctions

NEGRI BODIES in rabies virus-infected brain neurons, eosinophlic cytoplasmic inclusions

NELSON'S SYNDROME enlargement of a pituitary adenoma in a patient with Cushing's disease whose adrenals have been removed from loss of feedback inhibition of cortisol

NERVE ENDINGS free includes Merkel cell associated: found in the epidermis as small aggregates called tactile corpuscles (Merkel cell has neural crest and squamous properties); encapsulated includes Meissner's: asymmetrical, lamellated; Pacinian: symmetrical, lamellated; Ruffini: no lamellation

NIEMANN-PICK DISEASE sphingolipidosis (sulfatidose), lysosomal accumulation of sphingomyelin and cholesterol, type A&B (deficiency of sphingomyelin-cleaving enzyme sphingomyelinase) and type C&D (enzyme normal or nearly normal, defect in esterification and transport); type A, 75-80% of all cases, extensive neurologic involvement, marked visceral accumulations of sphingomyelin, and progressive wasting and early death within the first 3 years of life); half have cherry red spot in macula as in Tay-Sachs

NIKOLSKY'S SIGN in pemphigus vulgaris; the apparently normal epidermis may be separated at the basal layer and rubbed off when pressed with a sliding motion

NISSL BODIES in neurons, rough endoplasmic reticulum

NISSL STAIN stains cell bodies dye binds to acid groups, in particular the RNAs of the ribosomes located within the cell body; Franz Nissl, German medical student at time

NOONAN'S SYNDROME Turner's phenotypic characteristics without any sex chromosome abnormalities, males or females with congenital heart defect (usually pulmonic stenosis), pectus carinatum, short stature, mild mental retardation, hypertelorism, and webbed neck

NORWALK VIRUS outbreak in a school in Norwalk, Ohio in 1969

NORWEGIAN SCABIES crusted scabies, highly contagious, psoriaform dermatosis of the hands and feet with dystrophy of the nails and an erythematous scaling eruption that may be generalized; itching minimal; seen in institutionalized patients, mentally retarded, and in patients with HIV, HTLV-1, or adult T cell leukemia,

NOTHNAGEL'S SYNDROME injury to superior cerebellar peduncle causing ipsilateral oculomotor palsy and contralateral cerebellar ataxia

PAGET'S DISEASE OF BONE osteitis deformans, characterized by an initial osteolytic stage followed by a mixed osteoclastic-osteoblastic stage, which ends with a predominance of osteoblastic activity and evolves ultimately into a burnt-out quiescent osteosclerotic stage; increased alkaline phosphatase and increased urine hydroxyproline

PAGET-SCHROETTER SYNDROME effort thrombosis of the subclavian vein

PALLA'S SIGN in pulmonary embolism, enlarged right descending pulmonary artery

PANCOAST'S TUMOR apical lung cancers in the superior pulmonary sulcus tend to invade the neural structures around the trachea, including the cervical sympathetic plexus, and produce a group of clinical findings that include severe pain in the distribution of the ulnar nerve and Horner's syndrome on the same side of the lesion

PANETH CELLS in small intestine crypts, cells with apically oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system

PAP SMEAR developed by Papanicolaou, reported in 1941

PAPEZ CIRCUIT pathway from subiculum to the mamillary body and back to the cingulate gyrus believed to play a role in emotion (initially) and memory

PAPPENHEIMER BODIES small dark blue irregularly shaped granules often in clusters, composed of iron, seen in sideroblastic anemia following splenectomy

PARINAUD'S OCULOGLANDULAR SYNDROME preauricular node enlargement associated with chronic granulomatous conjunctivitis

PARINAUD'S SYNDROME dorsal midbrain syndrome with supranuclear vertical gaze disorder from damage to posterior commissure with loss of upgaze, convergence-retraction nystagmus, downwards ocular deviation, lid retraction, due to hydrocephalus from aqueductal stenosis, pineal region tumors

PARKLAND FORMULA total body surface area % burned x kg x 4; 1/2 in first 8 hours, second 1/2 given next 16 hours

PARRY-ROMBERG SYNDROME acquired progressive hemifacial atrophy

PARSONAGE-TURNER SYNDROME acute brachial neuritis

PASTIA'S SIGN associated with scarlet fever (GAS or S. aureus rarely); finely punctate erythema has become confluent (scarlatiniform) on the lower trunk and thighs with petechiae having a linear configuration in the inguinal regions

PATAU'S SYNDROME trisomy 13, 1/15,000 births, mental retardation, microcephaly, microphthalmia, brain abnormalities, cleft lip and palate, polydactyly, rocker-bottom feet, and congenital heart disease

PATRICK SIGN hip pain on external rotation of the hip in hip joint disease that may refer pain to back and thighs

PAUL-BUNNELL-DAVIDSOHN TEST extension of classic Paul-Bunnell test for heterophil antibody; antibodies not absorbed by guinea pig kidney cells but cause sheep erythrocytes to agglutinate

PAUTRIER'S MICROABCESSES q.v. Sézary-Lutzner cells

PEARSON SYNDROME refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction from mitochondrial DNA mutation

PEL-EBSTEIN FEVER in Hodgkin's disease, unusual systemic manifestation of a periodic fever that is present for some days, remits, and then returns

PELGER-HÜET ANOMALY seen in blood of AML (e.g., M2) or myelodysplastic syndromes or inherited as autosomal recessive trait and maybe sideroblastic

PELIZEUS-MERZBACHER DISEASE mutation in proteolipid protein on X chromosome, a major protein in CNS myelin; results in hypomyelination confined to the CNS, whitespread white matter dysfunction, leading to seizures, mental retardation, and death in childhood; see “tigroid” appearance on tissue sections stained for myelin

PEMBERTON'S SIGN In superior vena caval obstruction, development of facial plethora, inspiratory stridor, and non-pulsatile elevation of the JVP when patient lifts arms over his head

PENDRED'S SYNDROME autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin, a transport protein that affects organification of thyroglobulin; pendrin involved in transport of chloride and iodide

PEUTZ-JEGHERS SYNDROME rare AD syndrome characterized by multiple hamartomatous polyps scattered throughout the entire GI tract and melanotic mucosal and cutaneous pigmentation around the lips, oral mucosa, face, genitalia, and palmar surfaces; patients have increased risk of carcinomas of pancreas, breast, lung, ovary, and uterus

PEYRONIE'S DISEASE penile fibromatosis, a palpable induration or mass appears on the dorsolateral aspect of the penis. It may cause eventually abnormal curvature of the shaft or constriction of the urethra, or both

PFANNENSTIEL'S INCISION low transverse abdominal incision with retraction of the rectus muscles laterally, used in ob/gyn procedures

PFEIFFER BACTERIUM H. influenza, found in respiratory tracts of people ill with flu in 1890

PFEIFFER SYNDROME craniosynostoses as well as limb defects, mutations in FGFR1, broad thumbs, broad great toes

PHALEN'S MANEUVER median nerve compression, palmar flexion of the wrist for 1 minute exacerbates or reproduces symptoms; 75% sens 47% spec

PHILADELPHIA CHROMOSOME seen in 95% of chronic myelogenous leukemia (210 kD tyrosine kinase), 2-5% childhood ALL (180 kD TK), higher percent in adult; reciprocal and balanced translocation between chr22 (bcr, breakpoint cluster region) and chr9 (c-abl); c-abl-bcr encodes a chimeric protein with tyrosine kinase activity; genomic imprinting, chr9 paternal and chr22 maternal

PICK BODIES in neurons, cytoplasmic, round to oval, filamentous inclusions that strongly stain with silver, weakly eosinophilic; composed of neurofilaments, vesiculated endoplasmic reticulum, and paired helical filaments that are immunocytochemically similar to those found in Alzheimer's; don't survive death of host neuron like they do in Alzheimer's

PICK CELLS characteristic swelling of neurons in Pick's disease

PICK'S DISEASE subtype of frontal lobe dementia, characterized by language abnormalities such as logorrhea, echolalia, and palilalia (compulsive repetition of phrases), Pick bodies, Pick cells; occurs 1-5% as often as Alzheimer's

PICKWICKIAN SYNDROME obesity hypoventilation syndrome defined by extreme obesity and alveolar hypoventilation during wakefulness, characterized by hypersomnolence, dyspnea, hypoxemia (cyanosis, polycythemia, and plethora), and pulmonary hypertension leading to RV failure and edema; based upon Charles Dickens' book “The Posthumous Papers of the Pickwick Club” and the character Joe who was a “wonderfully fat boy, standing upright with his eyes closed”

PIERRE ROBIN SYNDROME micrognathia and abnormal smallness of the tongue, often with cleft palate, severe myopia, congenital glaucoma, and retinal detachment; French pediatrician, 1867-1950

PINK DISEASE acrodynia, occurs from exposure to high concentrations of mercury vapor, characterized by a body rash, swelling and irritation of palms and feet followed by skin desquamation, irritability, photophobia, fever, insomnia and profuse sweating, which may also follow oral exposure to mercury compounds

PISKACEK'S SIGN asymmetry of the uterus with a well-defined soft prominence of the cornu, due to implantation near one of the cornua

PITTSBURGH PNEUMONIA AGENT Legionella micdadei

PLUMMER'S DISEASE toxic multinodular goiter

PLUMMER'S NAIL onycholysis as a sign of hyperthyroidism, especially when it affects the ring finger

PLUMMER-VINSON SYNDROME from iron deficiency, a microcytic hypochromic anemia, atrophic glossitis, and esophageal webs (upper esophagus); 10% develop squamous cell carcinoma

POEMS SYNDROME polyneuropathy, organomegaly, endocrinopahty, M protein, and skin changes which may be seen in plasma cell dyscrasias

POISEUILLE'S LAW flow proportional to fourth power of radius, inversely proportional to length

POLAND SYNDROME amastia associated with hypoplasia of ipsilateral musculature (microsyndactyly or lack of one hand) and chest wall (atrophy of the ipsilateral pectoralis major) and GU abnormalities; 10% have dextrocardia or dextroversion

POLLE SYNDROME Munchausen syndrome by proxy; after daughter Polle from second marriage of Munchausen to 17 y.o. Bernhardine at age 74, daughter died 1 year later (though paternity apparently suspect) (Lancet 1977;2:456); but daughter Polle apparently doesn't exist but name of town where Bernhardine came from (Pediatrics 1984;74:554)

POMPE'S DISEASE type II glycogen storage disease, deficiency in ?-1,4-glucosidase (lysosomal enzyme) with consequent accumulation of glycogen, especially in the liver, heart, and skeletal muscle, characterized by cardiomegaly, muscle hypotonia, and splenomegaly, death from cardiorespiratory failure before age 3

POTT'S DISEASE tuberculous involvement of the spine; occurs in about 2% of TB cases

POTT'S FRACTURE fracture of distal fibula

POTT'S PUFFY TUMORS extension of frontal sinusitis anteriorly into frontal bone causing a distinct swelling

POTTER'S SEQUENCE from oligohydramnios (from e.g. renal agenesis, amniotic leak) leading to amnion nodosum, fetal compression which leads to pulmonary hypoplasia, altered facies, positioning defects of feet, hands, and breech presentation

POUPART'S LIGAMENT inguinal ligament

PRADER-WILLI SYNDROME deletion of 15q11-q13, paternally derived; uncontrollable hyperphagia after 12 months

PRATT'S SIGN in DVT, presence off three dilated veins or sentinel veins over the tibia; dilatation persists when legs are elevated to 45 degrees

PREHN'S SIGN elevation of painful testicle decreases pain of epididymitis

PRINZMETAL'S ANGINA variant angina occurs at rest, manifests on EKG as episodic ST segment elevations, caused by coronary artery spasms with or without superimposed coronary artery disease; patients more likely to develop ventricular arrhythmias

PSAMMOMA BODIES papillary thyroid cancer

PSOAS SIGN pain elicited by extending the hip with the knee in full extension, seen with appendicitis and psoas inflammation

PUESTOW PROCEDURE for chronic pancreatitis, side-to-side anastomosis of the pancreas and jejunum, for decompressing dilated main pancreatic duct and providing pain relief

PURTSCHER'S ANGIOPATHIC RETINOPATHY in acute pancreatitis, sudden and severe loss of vision due to posterior retinal artery occlusion with aggregated granulocytes; discrete flame-shaped hemorrhages with cotton-wool spots; also seen in fat embolization; first described in 1919 by Othmar Purtscher

FABRY'S DISEASE X-linked recessive sphingolipidosis (sulfatidose) alpha-galactosidase deficiency resulting in increased globosides, reddish-purple skin rash, kidney and heart failure, peripheral neuropathy, pain in lower extremities

FACTOR V LEIDEN Arg(506)→Gln, results in resistance to cleavage by activated protein C (an anticoagulant), found in 20% of patients with venous thromboembolism, 6% of U.S. population

FALLOT, TETRALOGY OF 1. ventricular septal defect; 2. infundibular, valvar, or supravalvar pulmonic stenosis; 3. an anteriorly displaced aorta that receives blood from both ventricles; 4. right ventricular hypertrophy

FANCONI'S ANEMIA autosomal recessive, predisposal to aplastic anemia, progressive bone failure at age 5-7, congenital malformations (frequently defects in thumbs or forearms, kidneys, GI, skin); 20% develop cancer (primarily AML but also in skin, GI, GU); diagnosed by seeing increased sensitivity of FA cells to bifunctional alkylating agents (e.g. diepoxybutane or mitomycin C)

FANCONI'S SYNDROME generalized dysfunction of proximal renal tubule leading to glycosuria, hyperphosphaturia, hypophasphatemia, aminoaciduria, and systemic acidosis; may be associated with out-dated tetracyclines

FARBER'S DISEASE sphingolipidosis from ceraminidase deficiency leading to painful and progressively deformed joints, subcutaneous nodules, granulomas, fatal in early life

FARMER'S SKIN cutis rhomboidalis nuchae

FELTY'S SYNDROME the combined features of rheumatoid arthritis, splenomegaly, and neutropenia, and leg ulcers; associated with HLA-DR

FERGUSON'S REFLEX anesthesia in ob, interruption of oxytocin release in response to cervical dilatation may cause uterine inhibition

FETOR HEPATICUS “musty” or “sweet odor” from the formation of mercaptans by the action of GI bacteria on the sulfur-containing amino acid methionine and shunting of splanchnic blood from the portal into the system circulation (portosystemic shunting)

FIFTH DISEASE erythema infectiosum, associated with parvovirus B19 infection, characterized by “slapped cheeks” and erythematous lacy eruption on the trunk and extremities; other 4 childhood rash diseases: measles, rubella, scarlet fever, and roseola (herpesvirus VI)

FISHER'S SYNDROME ataxia, ophthalmoplegia, areflexia; a form of polyneuroradiculitis

FITZ-HUGH-CURTIS SYNDROME associated with spread of gonococci or chlamydia: perihepatitis manifested by right upper quadrant or bilateral upper abdominal pain and tenderness and occasionally by a hepatic friction rib

FLATBUSH DIABETES GAD antibody negative NIDDM in adult black subjects with diabetic ketoacidosis and increased frequency of human leukocyte antigen DR3 and DR4

FOIX-ALAJOUANINE DISEASE angiodysgenetic necrotizing myelopathy, venous angiomatous malformation of the spinal cord and overlying meninges associated with ischemia and worsening neurologic symptoms in lumbosacral cord

FORDYCE'S SPOTS ectopic sebaceous glands seen in healthy mouth; may be confused with Koplik's spots which has an erythematous halo by comparison

FORRESTER CLASSIFICATION in myocardial infarction, I, PWP2.2 L/min/m2, 2% mort; II, PWP>18 and CI>2.2, 10% mort; III, CI18 and CI<2.2, 54% mort

FORSCHEIMER SPOTS in rubella, punctate soft palate macules

FOSTER KENNEDY SYNDROME optic atrophy, contralateral papilledema, and anosmia; may be associated with olfactory groove meningioma

FOTHERGILL'S SIGN in rectus sheath hematomas, tender mass that does not cross the midline and remains palpable when patient tenses the rectus muscle (bluish discoloration not usually seen until 3 or 4 days)

FOURNIER'S GANGRENE necrotizing infection of the perineal and genital fascia

FOUVILLE'S SYNDROME dorsal pontine injury giving rise to lateral gaze palsy, ipsilateral facial palsy, contralateral hemiparesis

FOX'S SIGN in hemorrhagic pancreatitis, ecchymosis of the inguinal ligament due to blood tracking from the retroperitoneum and collecting at the inguinal ligament

FRANK'S SIGN earlobe crease, associated with CAD (N Engl J Med. 1973;289:327-8)

FRANKLIN'S DISEASE gamma heavy chain disease, characterized by LAD, fever, anemia, malaise, HSM, and weakness, most distinctive symptom palatal edema

FREY SYNDROME gustatory sweating or auriculotemporal syndrome seen in the context of parotid surgery; ipsilateral forehead becoming drenched with sweat apparently because of some salivery nerve fibers connecting with autonomic efferents

FRIEDREICH'S ATAXIA a spinocerebellar degeneration, AR manifesting at 11 years, a less common AD 20 years; initial symptoms, gait ataxia, hand clumsiness, dysarthria, DTRs absent (extensor plantar present), joint position and vibratory sense impaired, sometimes loss of pain and temperature, paralyzed over course of 20 years, high incidence of diabetes and hypertrophic cardiomyopathy (dilated less common) and arrhythmias

FRIEDREICH'S FOOT seen in Friedreich's ataxia, pes cavus with hammer toe

FRIEDREICH'S SIGN exaggerated y descent in patients with increased venous pressure, associated with an S3; also associated with constrictive pericarditis

FROMENT'S SIGN diagnosis of ulnar nerve lesion; caused by flexor pollicus longus (median nerve) which comes into action when the patient attempts to grip a flat object between the thumb and the hand, and causes flexion at the interphalangeal joint.

BABINSKI SIGN upper motor sign that indicates dysfunction of fibers within the pyramidal system; described in 1896 by Babinski, student of Charcot

BACHMANN'S BUNDLE anterior internodal tract in atrial conduction system

BAINBRIDGE REFLEX compensatory increase in HR cause by a rise in right atrial pressure

BAKER'S CYST popliteal cyst, a fluid-filled mass within the popliteal fossa

BALINT'S SYNDROME optic ataxia (inability to visually guide limb movements), ocular ataxia (inability to direct eyes to a precise point in the visual field), inability to enumerate objects in a picture or extract meaning from a picture, and inability to avoid objects in one's path, simultanagnosia, from infarction in unilateral or bilateral visual association due to watershed stroke between distal PCA and MCA

BALKAN NEPHROPATHY degenerative interstitial nephropathy seen in Balkan areas (tributaries of Danube River), see tubular proteinuria, glycosuria, RTA, azotemia, associated with increased risk of upper tract transitional cell carcinoma

BALL'S DISEASE intracerebral leukocytostasis, potentially fatal complication of acute leukemia (especially AML) when peripheral blast cell cound >100,000/uL; leukemic cells capable of invading through endothelium and casuing hemorrhage into brain; not seen generally with CLL or CML

BALLANCE'S SIGN tender mass in the LUQ due to a spleen hematoma

BAMBOO SPINE seen in ankylosing spondylitis

BANTI'S SYNDROME splenomegaly, hypersplenism, and portal hypertension, noncirrhotic, arises after subclinical occlusion of the portal vein, usually years after occlusive event

BANTU SIDEROSIS unusual form of iron overloading resembling hereditary hemochromatosis in South African blacks ingesting large quantities of alcoholic beverages fermented in iron utensils

BÁRÁNY TEST see Dix-Hallpike test

BARLOW'S DISEASE mitral valve prolapse

BARLOW'S MANEUVER for congenital hip dislocation, patient placed in supine position and attempt made to push femurs posteriorly with knees at 90 degrees/hip flexed and hip will dislocate

BARRETT'S ESOPHAGUS esophageal strictures and epithelial metaplasia from squamous epithelium to a specialized columnar epithelium with intestinal metaplasia in 10% of severe GERD

BARTH SYNDROME infantile X-linked cardioskeletal myopathy

BARTTER'S SYNDROME hypokalemic, hypochloremic metabolic alkalosis with normal or low blood pressure despite increased renin and aldosterone levels and hyperplasia of juxtaglomerular apparatus due to mutations affecting diuretic-sensitive sodium-transport proteins

BASSEN-KORNZWEIG SYNDROME congential abetalipoproteinemia

BAT WING EDEMA pulmonary edema in perihilar distribution in approximately 5% of cases

BATEMAN'S SENILE PURPURA purpura following trauma to severely sun-damaged skin of the dorsal forearm of elderly persons; months may be required for resolution of pigmentation from hemorrhage

BATSON'S PLEXUS portal vertebral venous communications, may be responsible for isolated bone mets in sacrum or vertebral bodies from colorectal cancer

BATTLE'S SIGN ecchymoses over the mastoid process in basilar skull fractures, generally occurring approximately 48 hours after event

BCG Bacille bilié de Calmette-Guérin; Leon A. Calmette, French bacteriologist, 1863-1933; Camille Guérin, French bacteriologist, 1872-1961; attenuated strain of Mycobacterium bovis bacille Calmette-Guérin

BEAU'S LINES horizontal depressions across nail plate, caused by a transient arrest in nail growth, can occur during acute stress (e.g., high fever, circulatory shock, myocardial infarction, pulmonary embolism); will manifest as Beau's lines as nail grows out

BECHTEREW'S DISEASE ankylosing spondylitis

BECK'S TRIAD in pericardial tamponade, distended neck veins, distant heart sounds, hypotension, i.e. rising venous pressure, falling arterial pressure, and decreased heart sounds, Calude S. Beck thoracic surgeon 1935

BECKER'S MUSCULAR DYSTROPHY X-linked, normal levels of dystrophin but function altered, average onset 11 y.o., age at death 42 y.o., CK elevated

BECKER'S SIGN in aortic regurgitation, visible pulsations of the retinal arterioles

BECKWITH-WIEDEMANN SYNDROME exomphalos, macroglossia, gigantism

BEEVOR'S SIGN lesions of T9-T10 paralyze lower but spare upper abdominal muscles, resulting in upward movement of umbilicus when abdominal wall contracts

BEHÇET'S DISEASE aphthous ulcers, genital ulcerations, ocular inflammation (posterior uveitis), erythema nodosum, cutaneous pustular vasculitis, also synovitis, neurologic issues, and thrombophlebitis

BELL'S PALSY seventh nerve palsy; seen as a complication in diabetes, tumors, sarcoidosis, AIDS, and Lyme disease

BELL'S PHENOMENON physiological upward rotation of the eyeball triggered by contraction of the ipsilateral orbicularis muscle with resulting closure of the eyelid

BENCE JONES PROTEINS free Ig light chains seen in plasma cell dyscrasias (e.g. multiple myeloma, AL-amyloidosis, light-chain deposition disease, Waldenström's macroglobulinemia, MGUS, heavy-chain disease (mu) (rare), lymphoproliferative disease (rare), rifampin therapy (rare), filtered by glomerulus and then reabsorbed tubular cells; proteins are toxic to tubule cells

BENEDIKT SYNDROME clinical picture from paramedian midbrain infarction from occlusion of the paramedian penetrating branches of the basilar artery affecting the third nerve root fiber, red nucleus, cerebral peduncle resulting in ipsilateral medial rectus palsy with a fixed dilated pupil and contralateral tremor, chorea, and athetosis

BENNETT'S FRACTURE fracture of the base of the first metacarpal with involvement of carpometacarpal joint

BERGMAN MINIMAL MODEL determinants of glucose disposal: phi-1 (acute insulin secretion), phi-2 (sustained insulin secretion), Si (insulin sensitivity), Sg (glucose sensitivity)

BERGMAN'S TRIAD seen with fat emboli syndrome: 1. mental status changes; 2. petechiae (often in the axilla/thorax); 3. dyspnea

BERGMANN GLIOSIS in ethanol abuse, proliferation of astrocytes adjacent to lost Purkinje cells between depleted granular cell and molecular layer of cerebellum

BERNARD-SOULIER DISEASE absence of Gp Ib/IX, the von Willebrand receptor

BERNHEIM EFFECT in aortic stenosis, right ventricular failure preceding left ventricular failure from hypertrophied ventricular septum bulging into and encroaching on right ventricular filling

BERNHEIM EFFECT, REVERSE in pulmonary embolism, right ventricular failure causing septum to bulge into and compromise left ventricular filling

BERNSTEIN TEST to test for GERD, acid perfusion test of esophagus with 0.1 N HCl and see if reproduces chest pain; limited sensitivity and specificity though

BERRY'S SIGN in malignant thyromegaly, absence of carotid pulsation since the tumor tends to encase the carotid and muffles the pulsation

BERTIN, RENAL COLUMNS OF the spaces between adjacent pyramids where cortical tissue extends into

BETZ CELLS large pyramidal cells in layer 5 of primary motor cortex largest neurons in mammalian CNS; 30-40,000 Betz cells in precentral gyrus in one side of the brain

BEZOLD'S ABSCESS abscess of mastoid tip

BEZOLD-JARISCH REFLEX activation of receptors in the atria, great veins, and left ventricle causing increased parasympathetic tone and decreased sympathetic activity leading to a combination of hypotension and bradycardia with a sudden increase in coronary flow

BICKERSTAFF'S ENCEPHALITIS brain stem encephalitis

BIELSCHOWSKY'S TILT TEST in trochlear nerve palsy (which paralyzes the superior oblique muscle), elevation in the affected eye is greatest when the head is tilted toward the side of the involved eye and abolished by tilt in the opposite direction

BIER BLOCK regional anesthesia of an extremity by placing a tourniquet and then infusing local anesthetic into a vein

BILLROTH I antrectomy with gastroduodenostomy

BILLROTH II antrectomy with gastrojejunostomy

BILLROTH'S CORDS the splenic cords found in the red pulp between the sinusoids

BING'S SIGN extensor plantar response by pricking the dorsal surface of the big toe with a pin suggesting upper motor neuron defect

BING-HORTON SYNDROME erythroprosopalgia, attacks of facial pain associated with marked reddening of the ipsilateral half of the face associated with tearing and watery discharge from the nose, occurs during sleep and is of brief duration, believed to be due to irritaiton in greater petrosal nerve

BINSWANGER'S DISEASE subcortical arteriosclerotic encephalopathy, associated with hypertension; characterized by multiple lacunar infarcts and progressive demyelination limited to the subcortical area with characteristic sparing of cortex

BIOT'S BREATHING succession of hyperpnea/hyperventilations and apneas (seen in increased ICP, drug-induced respiratory depression, brain damage, usually medullary level), but lacks typical crescendo-decrescendo pattern, abrupt beginning, and regularity of Cheyne-Stokes breathing (c.f. Cheyne-Stokes, cerebral level)

BIRBECK'S GRANULES aka Langerhans's granules; a small tennis racket-shaped membrane-bound granule with characteristic cross-striated internal ultrastructure seen in Langerhans cell histiocytosis

BITOT'S SPOTS in vitamin A deficiency, small, circumscribed, lusterless, grayish white, foamy, greasy, triangular deposits on the bulbar conjunctiva adjacent to the cornea in the area of the palpebral fissure of both eyes

BLOMSTRAND DYSPLASIA rare lethal disorder characterized by an increase in bone density and advanced skeletal maturationfrom inactivating mutation in PTHR-1 gene (c.f. Jansen metaphyseal chondrodysplasia where there is an activating mutatino)

BLOOM'S SYNDROME severe immunodeficiency, growth retardation, and predisposition to several types of cancers associated with hypersensitivity to a variety of DNA-damaging agents

BLOUNT'S DISEASE idiopathic varus bowing of tibia

BLUMBERG SIGN rebound tenderness

BLUMER SHELF carcinomatous metastasis from a primary site high up in the peritoneal cavity, may accumulate in the stomach, felt through the anterior rectal wall as a hard shelf in the rectovesical or rectouterine pouch (pouch of Douglas)

BOAS'S SIGN right subscapular pain due to cholelithiasis, <7% sensitive

BOBBLE-HEAD SYNDROME in children with progressive hydrocephalus, rapid, rhythmic bobbing of the head

BOCHDALEK'S HERNIA hernia through the posterior diaphragm, usually on the left, presents in infancy

BOCKHART'S IMPETIGO follicular impetigo

BOERHAAVE'S SYNDROME pressure rupture of the esophagus; can give rise to Hamman's sign

BOHR EFFECT fall in pH leading to decrease in oxygen affinity of hemoglobin

BOHR EQUATION Vd/Vt, for determining ratio of physiologic dead space

BONNET'S SIGN banking of veins distal to AV crossings (grade 3) in hypertensive retinopathy; c.f. with Salus's sign and Gunn's sign

BONNEVIE-ULLRICH SYNDROME skeletal and soft tissue abnormalities (e.g., lymphedema of hands and feet, nail dystrophy, skin laxity), short stature, webbed neck.

BORDET-GENGOU MEDIUM for identifying Bordetella pertussis, medium contains high percentage of blood (20-30%) to inactivate inhibitors in blood; also has potato and glycerol

BORNHOLM DISEASE coxsackie virus producing pleurodynia, fever, cough, sore throat, myalgias in shoulder, chest, and abdomen; Bornholm Danish island in Baltic sea

BOSTON SIGN in thyrotoxicosis, jerking of the lagging lid

BOUCHARD'S NODES bony spurs at PIP in OA

BOWDITCH STAIRCASE increased heart rate increases the strength of contraction in a stepwise fashion as the intracellular calcium increases over several beats

BOWEN'S DISEASE carcinoma in situ of penis or scrotum, usually presents as a single erythematous plaque, most often on the shaft of the penis or on the scrotum, peak incidence after 50s; or more generally, squamous carcinoma in situ

BOXER'S FRACTURE fracture of the metacarpal neck, classically of small finger

BRADBURY-EGGLESTON SYNDROME pure autonomic dysfunction characterized by low circulating catecholamines

BRANHAM'S SIGN bradycardia after compression of AV fistula

BRILL-ZINSER DISEASE recurrent form of epidemic typhus (Rickettsiae prowazekii); persistently infected as a source

BRIQUET'S SYNDROME somatization disorder

BROCA'S AREA left frontal speech area, important for articulating speech; in Broca's aphasia, because Broca's area near motor cortex and underlying internal capsule, a right hemiparesis and homonymous hemianopsia is almost always present in this type of aphasia

BRODIE'S ABSCESS small, intraosseus abscess that frequently involves the cortex and is walled off by reactive bone

BROWN'S SYNDROME in rheumatoid arthritis, vertical diplopia, clicking sensation when looking up and medially, and an apparent inferior oblique palsy, apparently from stenosing tenosynovitis of the superior oblique tendon and sheath

BROWN-SÉQUARD SYNDROME loss of tactile sense, vibration sense, and limb position sense on the ipsilateral side and loss of pain and temperature sense on the contralateral side

BRUDZINSKI SIGN flex the neck, watch the hips and knees in reaction to maneuver positive sign, flexion of hips and knees, suggests meningeal inflammation

BRUEGHEL SYNDROME dystonia of the motor trigeminal nerve producing a widely opened mouth, named after painting by Flemish painter Brueghel (Neurol 1996;46:1768)

BRUGADA SYNDROME defect in an ion channel gene resulting in abnormal electrophysiologic activity in the right ventricle and characterized by (1) ST segment elevation in V1-V3, (2) right bundle branch block, (3) sudden cardiac death, (4) grossly normal heart

BRUNNER'S GLANDS in duodenum, submucosal mucous glands that secrete bicarbonate, glycoproteins, and pepsinogen II, virtually indistinguishable from pyloric mucous glands

BRUSHFIELD'S SPOTS in Down's syndrome, small white spots on the periphery of the iris

BRUTON'S TYROSINE KINASE mutation causes X-linked agammaglobulinemia (XLA also associated with defect in intact membrane-bound ( chain (it's essential for B-cell development) Btk found only in B cells

BUDD-CHIARI SYNDROME occlusion of the hepatic vein, associated with polycythemia vera, pregnancy, postpartum state, oral contraceptives, paroxysmal nocturnal hemoglobinuria, and intra-abdominal cancers, particularly hepatocellular carcinoma

BUERGER'S SIGN in peripheral vascular disease, red foot becomes pale with elevation

BURKITT LYMPHOMA tumor manifesting at extranodal sites; associated with translocation of c-myc gene on chr 8 with IgH locus (chr 14), kappa (chr 2), or lambda light-chain (chr 22) locus; associated with EBV infection in African variety

BURNETT'S SYNDROME far-advanced milk-alkali syndrome, due to long-standing calcium and alkali ingestion; severe hypercalcemia, irreversible renal failure, and phosphate retention, may be accompanied by ectopic calcification

BUSCHKE-LÖWENSTEIN TUMOR verrucous carcinoma involving penile glans and prepuce, associated with HPV

BYLER'S DISEASE progressive familial intrahepatic cholestasis from impaired biliary secretion of both bile acids and phosphatidylcholine, leads to death from liver failure before adolescence

RABSON-MENDENHALL SYNDROME congenital syndrome characterized by insulin resistance, acanthosis nigricans, and growth retardation; associated with developmental abnormalities of bones and teeth, PCOD, genitomegaly, and pineal gland hyperplasia; associated with mutation in insulin receptor

RACCOON EYES bilateral black eyes in basilar skull fracture

RAMSAY HUNT SYNDROME herpes zoster infection of the geniculate ganglion; facial nerve involvement (ear, palate, pharynx, or neck); pain and vesicles appear in external auditory canal along with hyperacusia, and patients lose their sense of taste in anterior 2/3 of tongue while developing ipsilateral facial palsy

RANDLE CYCLE glucose-free fatty acid cycle; inverse relationship between glucose and free fatty acid use

RANKE COMPLEX combination of Ghon lesion and involved lymph nodes in tuberculosis

RANSONS' CRITERIA at presentation, age>55; WBC>16,000; glucose>200; AST>250; LDH>350. during initial 48 hrs, BUN deficit>4; BUN increase>5; fluid sequestration>6L; Ca10; pO260s pathologic in all age groups

REITER'S SYNDROME In 1916, Reiter described a triad of arthritis, urethritis, and conjunctivitis; 80% possess HLA-B27; associated with Shigella flexneri; ReA develops in 20% of exposed B27+ individuals; subset of reactive arthritis; triad present in 1/3 of patients; incidence estimated as 3.5/100K in males under age of 50; balanitis circinata (penis) and keratoderma blenorrhagica

RENSHAW CELLS inhibitory cells in the ventral horn of the spinal cord

RETZIUS, SPACE OF the preperitoneal space anterior to the bladder

RETZIUS, VEINS OF numerous small veins in the retroperitoneum that connect the retroperitoneal viscera to the posterior abdominal wall; dilated in portal hypertension

REYE'S SYNDROME rare disease characterized by fatty change in liver and encephalopathy that in its most severe forms may be fatal; associated with VZV and influenza virus B in children given aspirin

REYNOLD'S PENTAD Charcot's triad plus altered mental status and shock in cholangitis

RICHTER SYNDROME the evolution of chronic lymphocytic leukemia to a large cell lymphoma with high fever, weight loss, enlarging lymph nodes, and hepatosplenomegaly

RICHTER'S HERNIA incarcerated or strangulated hernia involving only one sidewall of the bowel, which can spontaneously reduce, resulting in gangrenous bowel and perforation within the abdomen without signs of obstruction

RIEDEL'S LOBE in some persons, especially those with a lanky build, the liver tends to be somewhat elongated so that its right lobe is easily palpable as it projects downward toward the iliac crest; such elongation, called Riedel's lobe

RIEDEL'S THYROIDITIS unknown etiology, marked by glandular atrophy, hypothyroidism, and replacement of the thyroid by fibrous tissue with adhesion to surrounding structures

RIESMAN'S SIGN bruit over closed eyes in thyrotoxicosis

RIGGLER'S SIGN see bowel wall in perforation on plain films

RILEY-DAY SYNDROME hereditary sensory and autonomic neuropathy type III (familial dysautonomia), recessive disorder that commences in infancy and is characterized by conspicuous autonomic dysfunction (absent tearing, labile temperature, and blood pressure), and accompanied by absent taste sensation, absent funfigform papillae on tongue, impaired pain and temperature sensation, and areflexia; occurs among Ashkenazi

RINNE TEST sensorineural loss, AC>BC conduct loss, BC>AC

RITTER'S DISEASE Staph scaled skin syndrome

ROBERTS SYNDROME autosomal recessive syndrome characterized by absence of leg bones, hypoplastic arms, bilateral cleft lip and cleft palate, prominent eyes

ROGER'S DISEASE small congenital VSD defect <0.5 cm in diameter (most are muscular); Henri L. Roger, French physician, 1809-1891

ROKITANSKY-ASCHOFF SINUSES small outpouchings of the gallbladder mucosa that may penetrate into and through the muscle wall; prominence in the settings of inflammation and gallstone formation (e.g. chronic cholecystitis) suggests that they are acquired herniations

ROMAÑA'S SIGN in the first week of Chagas disease, unilateral periorbital edema and swelling of the eyelid associated with reduviid bug of eye

ROMBERG TEST patient stands feet together, eyes open and then closes both eyes for 20 to 30 sec without support; positive test with eyes open suggestive of cerebellar ataxia; with eyes closed suggestive of impaired proprioception

ROSENBACH'S SIGN in thyrotoxicosis, tremor of the closed eyelids

ROSENBACH'S SIGN in aortic regurgitation, hepatic pulsations

ROSENTHAL FIBERS inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander's disease

ROTH'S SPOTS in bacterial endocarditis and other retinal hemorrhagic conditions, a round white spot surrounded by hemorrhage (secondary to microemboli in endocarditis)

ROTOR'S SYNDROME poorly defined defects in hepatic uptake and storage of bilirubin; resembles Dubin-Johnson syndrome, but liver pigment missing

ROTTER'S LYMPH NODES lymph nodes between the pectoralis minor and pectoralis major

ROVSING'S SIGN pain in the right lower quadrant during left-sided pressure suggests appendicitis; so does right lower quadrant pain on quick withdrawal (referred rebound tenderness)

RUFFINI'S CORPUSCLES sensory receptors for heat

RUMPEL-LEEDE SIGN test for capillary fragility carried out by incresing venous pressure in forearm with BP cuff and then inspecting the skin for petechial eruptions. Also called Hess test.

RUSELL'S SIGN lanugo, dry skin, hand calluses, associated with purging and bulimia

RUSSELL BODIES endoplasmic reticulum of plasma cells engaged in active synthesis of immunoglobulins may become hugely distended, producing large, homogenous eosinophilic inclusions called Russell bodies; also seen in Waldenstöm macroglobulinemia

RUSSELL VIPER VENOM TIME sensitive screening tests for lupus anticoagulant activity

RUSSELL-SILVER SYNDROME syndrome characterized by lateral asymmetry and low-birth-weight dwarfism

LACHMAN MANEUVER for diagnosing ACL tear, pull on tibia in anterior direction with knee flexed at 20-25 degrees (if tibia slides anteriorly >2 mm, positive)

LADIN'S SIGN an area of elasticity on the anterior face of the uterus just above the cervix; felt on palpation through the vagina as early as the 5th or 6th week

LADY WINDERMERE'S SYNDROME MAC pulmonary disease affecting fastidious elderly women in the dependent portion fo the lingula or the right middle lobe due to proposed habitual voluntary suppression of cough leading to the development of nonspecific inflammatory processes in these poorly draining lung regions, upon which MAC-PD engrafted. Chest 1992;101:1605-9

LAENNEC'S CIRRHOSIS in alcoholic cirrhosis, residual parenchymal nodules that protrude like “hobnails” from the surface of the liver

LAFORA'S DISEASE progressive myoclonus epilepsy, autosomal recessive, onset teenage years, characterized by seizures and cumulative neurological deterioration, death within ten years usually results in death within ten years of the first symptoms

LAMBERT, CANALS OF direct accessory bronchioalveolar connections

LAMBERT-ETON MYASTHENIC SYNDROME disease of neuromuscular junction associated with paraneoplastic process with proximal muscle weakness that improves with repetitive stimulation; associated with P/Q type presynaptic voltage-gated calcium channel antibodies; 70% have malignancy, usually small cell cancer

LANCISI'S SIGN giant v waves in tricuspid regurgitation

LANDAU-KLEFFNER SYNDROME childhood disorder characterized by auditory verbal agnosia and seizures

LANDOLFI'S SIGN in aortic regurgitation, systolic contraction and diastolic dilation of the pupil

LANGER'S LINES lines used for elective incisions, developed by Karl Langer, an anatomy professor. from cadavers in rigor mortis

LAPLACE'S LAW wall tension = pressure x radius (thus colon perforates preferentially at the cecum because of the increased radius and resultant increased wall tension)

LARON DWARFISM autosomal recessive, growth hormone receptor defects, low IGF-1 levels

LASÈGUE'S SIGN when patient is supine with hip flexed, dorsiflexion of ankle causing pain or muscle spasm in the posterior thigh indicates lumbar root or sciatic nerve irritation

LASSA FEVER hemorrhagic fever caused by Lassa virus, first isolated in 1969 in Nigeria, an arenavirus, spread through contact with secretions (e.g., urine) from infected rats; fatality 15-20% of hospitalized patients; can be treated with ribavirin

LAURENCE-MOON-BIEDL SYNDROME obesity, retinitis pigmentosa, metal retardation, skull deformities, polydactyly, and syndactyly

LEBER HEREDITARY OPTIC NEUROPATHY mitochondrial DNA disease, progressive bilateral loss of central vision, presents 15-35 y.o, associated with cardiac conduction defects and minor neurological manifestations

LEFORT I FRACTURE transverse maxillary fracture above dental apices, which also traverses pterygoid plate; nasal complex stable

LEFORT II FRACTURE fracture through frontal process of maxilla, through orbital floor, and pterygoid plate; midface is mobile

LEFORT III FRACTURE complete craniofacial separation; different from LeFort II in that it extends through the nasofrontal suture and frontozygomatic sutures

LEGG-CALVÉ-PERTHES DISEASE self-limiting hip disorder of children, 4-8 y.o. (M:F 8:1) involving vascular compromise of the capital femoral epiphysis; perhaps some aseptic necrosis action too

LEIGH'S DISEASE autosomal recessive disorder from defects in mitochondrial pathway for converting pyruvate to ATP leading to lactic acidemia, developmental problems, seizures, involvement of periaqueductal gray area, extraocular palsies, weakness, hypotonia, death within 1 to 2 years

LEINER'S DISEASE seborrheic erythroderma associated with diarrhea and failure to thrive and to generate C5a chemotactic factor

LEMIERRE'S SYNDROME orophayrgeal infection (usually by anaerobe Fusobacterium necrophorum) complicated by injernal jugular vein thrombosis and metastatic abscesses in lung, characterized by spiking fevers, tenderness of sternocleidomastoids; see ring enhancement with central lucency in IJV on CT

LENÈGRE'S DISEASE sclerodegenerative disease of conduction system, particularly of right bundle branch and left anterior fascile in people over 50; associated with slow progression to complete heart block

LENNOX-GASTAUT SYNDROME childhood seizure disorder associated with multiple seizure types, slow spike-wave EEGs, mental retardation, and resistant to standard anti-epileptic medications

LEOPOLD'S MANEUVER at 28 weeks, four sequential palpations of gravid abdomen to determine the position of the fetus

LEPRECHAUNISM 1 in 4 million births, associated with elfin-like facies, decreased s.c. adipose tissue, acanthosis nigricans, and growth retardation, failure to thrive, and early death, insulin resistance

LERICHE'S SYNDROME aortoiliac occlusive disease producing distal ischemic symptoms and signs, e.g. pulseless femoral artery: 1. claudication of buttocks, 2. impotence, 3. atrophy of buttocks (seen with iliac occlusive disease)

LESCH-NYAN SYNDROME a complete lack of hypoxanthine guanine phosphoribosyl transferase (HGPRT, involved in salvage pathway in purine synthesis), X-linked, hyperuricemia, severe neurologic deficits with mental retardation, self-mutilation, and in some cases gouty arthritis

LESER-TRÉLAT SIGN the sudden appearance and rapid increase in the number and size of seborrheic keratoses with pruritus; associated with internal malignancy

LETTERER-SIWE DISEASE acute disseminated Langerhans' cell histocytosis; associated with development of cutaneous lesions that resemble a seborrheic eruption secondary to infiltrations of Langerhans' histocytes over the front and back of the trunk and on the scalp; concurrent hepatosplenomegaly, lymphadenopathy, pulmonary lesions, and eventually destructive osteolytic bone lesions

LEV'S DISEASE fibrosis or calcification extending from cardiac fibrous structures into to the conduction system

LEVINE'S SIGN when describing angina, defining the constricting discomfort with a clenched fist over sternum; q.v. angina for sens and spec; Samuel A. Levine, U.S. cardiologist, 1891-1966; designated hand movements 80% sens 49% spec; Levine sign itself 14% sens for cardiac pain (BMJ 1995;311:1660)

LEVINTHAL PARADOX magnitude of conformational search problem in protein folding; an unbiased search for all possible protein conformations would take a lifetime, yet proteins fold in microseconds to minutes

LEWY BODIES eosinophilic intracytoplasmic bodies of alpha synuclein in neurons of substantia nigra and locus ceruleus present in Parkinson's disease

LEWY BODY DEMENTIA most common dementia associated with Parkinson's disease characterized by Lewy bodies found in brain stem and cortex, visual hallucinations which may be exacerbated by the treatment for parkinsonism

LEYDIG CELL TUMORS testicular tumor derived from the stroma, may find Reinke crystals (q.v.)

LHERMITTE'S SIGN sudden electric-like shocks extending down the spine on flexing the head; may result from poseterior column lesion, toxic effects of radiation; (may be found in vitamin B6 toxicity); (may be found in vitamin B12 deficiency); seen in 3% of multiple sclerosis

LIBMAN-SACKS DISEASE in systemic lupus erythematosus, intense mitral and tricuspid valvulitis with development of small, sterile vegetations

LIDDLE'S SYNDROME severe low renin hypertension, hypokalemia, and metabolic alkalosis that mimicked hyperaldosteronism but found to have low aldosterone levels; due to constitutively activating autosomal dominant mutation in beta subunit of epithelial sodium channel

LIEBERKÜHN, CRYPTS OF intestinal glands found between villi

LI-FRAUMENI SYNDROME mutant p53 allele inherited, predisposition toward breast carcinomas, sarcomas, and brain tumors, half have tumors before age 30, 70% before age 90

LIGHT'S CRITERIA for separating transudate v. exudate; if at least one of the criteria is present, fluid virtually always an exudate: 1. pleural fluid/serum protein ratio > 0.5; 2. pleural fluid LDH/serum LDH ratio > 0.6; 3. pleural fluid LDH > 2/3 upper limit of normal serum LDH. Ann Intern Med 1972; 77:507

LISCH NODULES in type I neurofibromatosis, pigmented iris hamartomas

LISKER'S SIGN in thrombophlebitis or DVT, tenderness to percussion of the medial anterior tibial surface

LISSAUER'S TRACT small diameter primary sensory axons (presumably mediating pain and temperature senses) on their way into the dorsal horn

LITTEN'S SIGN diaphragmatic movement seen on one side but not the other side in unilateral phrenic nerve palsy

LITTRE'S HERNIA hernia involving a Meckel's diverticulum

LÖFFLER'S SYNDROME simple pulmonary eosinophilia, characterized by transient pulmonary lesions, eosinophilia in the blood, and a benign clinical course; lungs show alveoli whose septa are thickened by an infiltrate composed of eosinophils and occasional interspersed giant cells, but there is no vasculitis, fibrosis, or necrosis; associated with ascaris, strongyloides

LÖFGREN'S SYNDROME sarcoidosis associated with erythema nodosum and fever and transient arthritis, bilateral hilar adenopathy; 10-15% of sarcoidosis present this way

LOOSER'S ZONES radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric, found at the axillary margins of the scapula, lower ribs, neck of the proximal femurs, and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Milkman's fractures

LOU GEHRIG'S DISEASE amyotrophic lateral sclerosis (in France, Charcot's disease)

LOUIS, ANGLE OF sternal angle

LOUVEL'S SIGN in DVT, venous pain induced by coughing, prevented by pressing over proximal end of vein

LOVIBOND'S ANGLE the angle made by the proximal nail fold and the nail plate

LOWENBERG'S SIGN in DVT, two calves are wrapped with cuffs to see if there is assymetry in tolerance to pressure of 180 mm Hg

LÖWENSTEIN-JENSEN MEDIUM medium for growing M. tuberculosis

LÖWENSTEIN-JENSEN'S MEDIUM for growing out M. tuberculosis; contains malachite green, a triphenlyamine die like crystal violent, inhibits growth of unwanted organisms during 6 week incubation period as well as complex nutrients

LOWN-GANONG-LEVINE SYNDROME enhanced AV node pathways, <0.12 s, no QRS widening, no delta waves

LUDWIG'S ANGINA aggressive infectious process of the submandibular, sublingual, and submental fascial spaces frequently occurring as a result of infection from 2nd and 3rd lower molar; 54% mortality in preantibiotic era, now 4% described in 1836 by Wilhelm Frederick von Ludwig

LUGOL'S SOLUTION 5% iodine and 10% KI, a dose of 6.3 mg of I per drop, for giving iodine

LUND'S NODE lymph node found in Calot's triangle, aka Calot's node

LURIA'S LAW three antibiotics = 1 fungal infection

LUSCHKA, DUCTS OF small tubular channels found buried within the gallbladder wall adjacent to the liver, communicates with the biliary tree, rarely patent accessory bile secretory ducts

LUSCHKA, FORAMINA OF two laterally placed foramens exiting out of fourth ventricle

LUTEMBACHER'S SYNDROME atrial septal defect with mitral stenosis; though mitral stenosis is often of rheumatic origin

LYELL'S SYNDROME toxic epidermal necrolysis

LYNCH SYNDROME I AD produces multiple colon cancers 2 to 3 decades earlier, predilection for proximal colon; Lynch syndromes most common forms of familial colon cancer, 5-10% of all cases of colon cancer; better prognosis than sporadic colon cancer; deficiency in mismatch repair genes in 85% of Lynch syndromes

LYNCH SYNDROME II cancer family syndrome, all features of Lynch I with early onset of carcinoma at other sites including endometrium, ovaries, and stomach, also upper tract TCC

SABIN-FELDMAN DYE TEST serum titer rises in toxoplasma infection

SABOURAUD'S AGAR for growing fungi, low pH of medium and chloramphenicol and cycloheximide

SAINT'S TRIAD the association of 1. cholelithiasis, 2. hiatal hernia, 3. diverticular disease in a patient

SALUS'S SIGN deflection of veins at AV crossings in hypertensive retinopathy (grade 2); c.f. Bonnet's and Gunn's sign

SAMTER'S TRIAD nasal polyps, bronchial asthma, aspirin sensitivity

SANDHOFF'S DISEASE AR sphingolipidosis beta-hexosaminidase A and B deficiency, same symptoms as Tay-Sachs but more rapid progression of disease

SANFILIPPO'S SYNDROME mucopolysaccharidosis, four types (A-D) from deficiency of enzymatic steps necessary for removal of N-sulfated or N-acetylated glucosamine residues from heparan sulfate, leading to mental retardation, CNS disorders, coarse facies

SANTORINI, DUCT OF dorsal duct of pancreas, embryologically, the biggest duct, clinically the smaller pancreatic duct

SANTOS'S SYNDROME Hirschsprung's disease with renal agenesis, polydactyly, hypertelorsim, and deafness

SATURDAY NIGHT PALSY radial neuropathy from compression at the spiral groove

SCAHMBERG'S DISEASE idiopathic capillaritis in which inflammation weakens capillaries, causes petechial lesions like cayenne pepper

SCHAFER'S MANEUVER extensor plantar response by squeezing Achilles tendon suggesting upper motor neuron defect

SCHAMROTH'S WINDOW TEST for testing clubbing

SCHATZKI'S RING esophageal rings and webs in lower esophagus, located at or just above the squamocolumnar junction; most common cause of intermittent solid food obstruction

SCHAUMANN'S BODIES laminated concretions composed of calcium and proteins, seen in granulomatous diseases (e.g. sarcoidosis)

SCHEIE'S SYNDROME mucopolysaccharidosis (I S), from alpha-L-iduronidase deficiency (related to Hurler's syndrome), resulting in corneal clouding, stiff joints, aortic valve disease, normal intelligence and life span, because of defect in degradation of dermatan sulfate and heparan sulfate

SCHICK'S TEST for testing immune status to Cornyebacterium diphtheriae, intradermal injection of 0.1 mL of purified standardized toxin; if no inflammation, antitoxin present

SCHILLING TEST first stage, measuring cobalamin (B12) absorption by determining how much p.o. radioactive cobalamin is excreted in urine over 24 to 48 hours (after i.m. inj inj B12 to saturate the transcobalamines and to “flush” orally absorbed radiolabeled B12 into the urine). Second stage, test repeated with oral intrinsic factor, should normalize B12 absorption in pernicious anemia but not in intestinal malabsorption

SCHIRMER'S TEST measures quantity of tears secreted in 5 minutes in response to irritation from a filter strip placed under each lower eyelid; normal young person moistens 15 mm; 33% of elderly wet only 10 mm in 5 minutes; in Sjögren's syndrome, <5 mm in 5 min, 85% sensitivity, 85% specificity

SCHLESINGER'S SOLUTION morphine and scopolamine

SCHMID METAPHYSEAL CHONDRODYSPLASIA mutation in collagen X, mechanical pressure reduces growth

SCHMIDT'S SYNDROME type II polyglandular syndrome, coexistent adrenal and thyroid disease, sometimes accompanied by IDDM

SCHOBER TEST measures distraction between 2 marks on the skin during forward flexion in ankylosing spondylitis

SCHULTZ-CHARLTON PHENOMENON was observed after intradermal inj of 0.1 mL of antitoxin into an area of scarlet fever rash that produced “blanching” at the site of injection within 12-24 h. The test has to be performed during the very early phase of the eruption before exudation into the lesion made skin changes irreversible.

SCHWACHMAN-DIAMOND-OSKI SYNDROME combination of neutropenia, metaphyseal dysplasia, and pancreatic insufficiency, AR trait

SCHWARTZ'S DICTUM no acid, no ulcer

SCOTT SYNDROME defect in primary homeostasis, prolonged PT, deficient in platelet coagulant activity which provides the phospholipid surface and landing pad for prothrombinase in the presence of calcium

SEGAWA SYNDROME hereditary progressive dystonia with marked diurnal fluctuaion from defect in GTP cyclohydrase I, cofactor for synthesis of dopamine; dystonia treatable with levodopa

SELDINGER TECHNQIUE guide wire-assisted vascular cannulation, i.e., small-bore needle first used to enter vessel, then wire passed through needle, needle removed, leaving wire in place for guiding cannulation of vessel, developed in 1953

SELIGMANN'S DISEASE ? heavy chain disease, characterized by infiltration of the lamina propria of the small intestine with lymphoplasmacytoid cells that secrete truncated ? chains

SELLICK'S MANEUVER cricoid pressure during intubation

SENEAR-USHER SYNDROME pemphigus erythematosus; a localized variety of pemphigus foliaceus confined to seborrheic sites

SENGSTAKEN-BLAKEMORE TUBE tube a double-balloon system, one for stomach, one for esophagus, for tamponade of bleeding varices

SERTOLI CELL TUMORS testicular tumor derived from the sex cord

SEVER'S DISEASE apophysitis of the calcaneus, common (but frequently source of heel pain), condition occurs before or during the peak growth spurt, often resolves two weeks or two months after initiation of conservative treatment

SÉZARY'S SYNDROME rare special variant of cutaneous T-cell lymphoma characterized by generalized or universal erythroderma, peripheral lymphadenopathy, and cellular infiltrates of atypical lymphocytes (Sézary cells) in the skin and blood

SÉZARY-LUTZNER CELLS found in cutaneous T-cell lymphoma, T-helper cells that characteristically form band-like aggregates within the superficial dermis and invade the epidermis as single cells and small clusters (Pautrier's microabcesses)

SHEEHAN'S SYNDROME postpartum pituitary necrosis, syndrome results from sudden infarction of the anterior lobe precipitated by obstetric hemorrhage or shock (pregnancy, pituitary enlarges to almost twice its normal size, compressing blood supply)

SHIRAZ DWARFISM zinc deficiency, in Iran, short stature and aspermia

SHOHL'S SOLUTION alkalinizing citrate solution in hyporeninemic hypoaldosteronism associated with renal tubular acidosis associated with diabetic nephropathy

SHULMAN'S SYNDROME eosinophilic fasciitis, characterized by acute onset of erythema, swelling, induration of the extremities, and eosinophlia, often following exercise; epidermis and dermis normal

SHWACHMAN'S SYNDROME pancreatic insufficiency and bone marrow dysfunction

SHWARTZMAN REACTION two iv injections of sublethal lipopolysaccharide, 24 hrs apart, causing DIC in rabbits; TNF obligatory mediator

SHY-DRAGER SYNDROME degenerative disorder characterized by parkinsonian features (leading to postural hypotension, anhidrosis, disturbance of sphincter control, impotence, etc.) and signs of more widespread neurologic involvement (pyramidal or lower motor neuron signs and often a cerebellar deficit)

SIEGRIST STREAKS linear hyperpigmented areas over choroidal vessels in hypertensive retinopathy

SILK GLOVE SIGN indirect hernia sac in the pediatric patient; the sac feels like a finger of a silk glove when rolled under the examining finger

SIMMOND'S DISEASE pituitary cachexia (e.g. from Sheehan's syndrome)

SIMS-HUHNER TEST post coital test, done 2-4 hrs after intercourse to assess number and motility of sperm that have entered the cervical canal

SINGERS'S NODULE is a small, benign laryngeal polyp, usually induced by chronic irritation, such as excessive use of the voice, and is associated most commonly with heavy cigarette smoking; is usually localized to the true vocal cords

SIPPLE'S SYNDROME MEN type IIa; pheochromacytoma, medullary carcinoma of the thyroid, and hyperparathyroidism due to hyperplasia or tumor

SISTER MARY JOSEPH NODULE abdominal carcinoma, especially gastric, may metastasize to the navel; Sister Joseph, in the early days of the Mayo Clinic, noted periumbilical nodules in patients with intraabdominal cancer

SJÖGREN'S SYNDROME lymphocytic infiltration affects salivary and lacrimal glands and is associated with dry mouth and dry eyes (keratoconjunctivitis sicca); may have either interstitial pulmonary fibrosis or a lymphocytic infiltration of the alveolar walls (may have a malignant transformation with the development of a lymphoma)

SKENE'S GLANDS paraurethral glands in women

SKIRROW'S MEDIUM contains vancomycin, trimethoprim, cephalothin, polymixin, and amphotericin B; for growing e.g. Campylobacter

SLY'S SYNDROME mucopolysaccharidosis (VII), from beta-glucoronidase deficiency, resulting in hepatosplenomegaly, physical deformity from defect in degradation of dermatan sulfate and heparan sulfate

SMITH'S FRACTURE opposite of Colle's fracture; fracture of the distal radius, but from falling on the dorsum of the hand

SNEDDON'S SYNDROME livedo reticularis associated with stroke-like episodes

SOMOGYI PHENOMENON rebound hyperglycemia following an episode of hypoglycemia due to counterregulatory hormone release

SPANISH FLU 1918 influenza with 20-100 million deaths worldwide with 2.5% mortality (influenza normally 0.1% mortality)

SPIGELIAN HERNIA hernia through the linea semilunaris, aka spontaneous lateral ventral hernia

SPURLING'S TEST for diagnosing cervical radiculopathy, exerting downward pressure on the head while rotating the head towards the symptomatic side creating pain radiating into affected extremity

ST. ANTHONY'S FIRE ergotism; disease caused by excess ergot alkaloid; classically an epidemic caused by consumption of grain that's contaminated by the ergot fungus; any of several inflammations or gangrenous conditions of the skin (erysipelas)

ST. JUDE VALVE prosthetic valve with two semicircular discs that pivot between open and closed positions without supporting struts

ST. VITUS'S DANCE q.v. Sydenham's chorea

STARR-EDWARDS VALVE ball and cage valve, oldest prosthetic valve in continuous use

STAUFFER'S SYNDROME elevation of LFTs due to cholestasis in renal cell carcinoma

STEELE-RICHARDSON-OLSZEWSKI SYNDROME aka progressive supranuclear palsy

STEIN-LEVENTHAL SYNDROME polycystic ovarian disease

STELLWAG'S SIGN incomplete and infrequent blinking in Graves's disease

STENSEN'S DUCT parotid duct, enters oral cavity opposite crown of second maxillary molar tooth

STEVENS-JOHNSON SYNDROME extensive and symptomatic febrile form of erythema multiforme, more common in children; 1-6 cases/million person-years

STEWART-TREVE SYNDROME lymphedema following mastectomy leading to lymphangiosarcoma

STICKLER SYNDROME mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, some forms associated with a dominant negative mutation in the human COL11A2 gene encoding the ?2(XI) chain; another form of Stickler syndrome from mutation in COL2A1

STILL'S DISEASE, ADULT ONSET polyarthritis associated with sudden onset of high spiking fever, sore throat, and an evanescent erythematous salmon-colored rash

STILL'S MURMUR described by George Still in 1909; normal vibratory midsystolic murmur; innocent murmur

STOCKHOLM SYNDROME victims sympathizing with victimizer, e.g., kidnapper

STOKES-ADAMS ATTACKS fainting spells associated with complete heart block (or other types of bradycardia)

STRANSKY'S SIGN involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds, and then acutely letting it go in upper motor neuron defects

STROOP TEST stress test, also used for checking frontal function, where patients are tested for the ability to read off the text color of text spelling potentially different colors

STRÜMPELL'S SIGN involuntary pronation of the forearm/wrist with passive extension and flexion of the arm at the elbow in upper motor neuron defect

STURGE-WEBER SYNDROME association of port-wine stain with vascular malformations in the eye (glaucoma) and leptomeninges and superficial calcifications of the brain; attributed to faulty development of certain mesodermal and ectodermal elements, and associated with mental retardation, seizures, hemiplegia, and radiopacities in the skull

SUDECK'S SYNDROME reflex sympathetic dystrophy syndrome occurring in older people characterized by cystic changes and subchondral erosion in bone, diffiuse osteoporosis, and muscle atrophy, but not necessarily associated with trauma

SUSAC SYNDROME microangiopathy of the inner ear, retina, and brain leading to deafness, retinal artery occlusion, and encephalopathy

SWEET'S SYNDROME acute febrile neutrophilic dermatosis or Sweet syndrome, initially described in 1964 by Robert Sweet. It is characterized fever, neutrophilic leucocytosis, abrupt appearance of erythematous, painful, cutaneous plaques and dense dermal infiltrate consisting of mature neutrophils without vasculitis signs.

SYDENHAM'S CHOREA aka St. Vitus's dance A postinfectious chorea appearing several months after a streptococcal infection with subsequent rheumatic fever. The chorea typically involves the distal limbs and is assoc. with hypotonia and emotional lability. Improvement occurs over weeks or months and exacerbations occur without assoc. infection occurrence.

SYLVIAN AQUEDUCT cerebral aqueduct of the midbrain that connects the third and fourth ventricle

HAGEMAN FACTOR factor XII

HAILEY-HAILEY DISEASE benign familial chronic pemphigus

HALDANE EFFECT deoxygenated hemoglobin having a greater affinity for CO2 than oxygenated hemoglobin

HALLERMANN-STREIFF SYNDROME autosomal recessive syndrome with bird-like facies with hypoplastic mandible and beaked nose, proportionate dwarfism, hypotrichosis, microphthalmia, and congenital cataract

HALLERVORDEN-SPATZ DISEASE autosomal recessive juvenile-onset generalized neuroaxonal dystrophy characterized by progressive movement alterations such as dystonia, tardive dyskinesia, rigidity, choreoathetosis, pyramidal signs, and mental retardation

HAM'S TEST for diagnosing paroxysmal nocturnal hemoglobinuria, uses increased sensitivity of PNH-affected RBCs to lysis by complement; introduced in late 1930's

HAMMAN'S SIGN mediastinal crunch is a series of precordial crackles synchronous with the heart beat, not with respiration. Best heard in the left lateral position, it is due to mediastinal emphysema (pseudomediastinum), seen with Boerhaave's syndrome

HAMMAN-RICH SYNDROME acute interstitial pneumonia, a rare fulminant form of lung injury that presents acutely (days to weeks from onset of symptoms), most commonly occurs in previously healthy individual, characterized by a temporally uniform lesion which reflects an episode of acute lung injury at a single point in time (different from usual interstitial pneumonia where lesions are different age); path shows diffuse alveolar damage (a nonspecific reaction pattern)

HAMPTON'S HUMP in pulmonary embolism/infarction, a wedge-shaped infiltrate that abuts the pleura; often associated with a small pleura effusion that is usually exudative and may be hemorrhagic; not specific

HAMPTON'S LINE radiolucent collar of granulation tissue across the base of an ulcer

HAND-SCHÜLLER-CHRISTIAN TRIAD in multifocal Langerhans' cell histiocytosis, triad of calvarial bone defects, diabetes insipidus, and exophthalmos

HANGMAN'S FRACTURE fracture of pars interarticularis of C2, hyperextension injury

HANNINGTON-KIFF SIGN ipsilateral loss of the adductor reflex with preservation of patellar reflex in strangulated obturator hernia

HANSEN'S DISEASE leprosy

HANSEN'S STAIN special stain used to detect eosinophiluria on the urine sediment

HARDY-WEINBERG EQUILIBRIUM p^2 + 2pq + q^2 for describing the frequency of these genotypes; sexual reproduction doesn't cause a constant reduction in genetic variation in each generation but remains constant

HARRISON'S GROOVE during active rickets, the protuberant rachitic abdomen pushes the plastic lower ribs outward on a fulcrum formed by the costal attachments of the diaphragm; the line of bending forms a groove or sulcus in the rib cage

HARTMAN'S PROCEDURE proximal colostomy followed by stapled-off colon or rectum that is left in the peritoneal cavity

HARTNUP DISEASE an autosomal recessive disorder in which there is a reduction of small-intestinal and renal transport of certain neutral amino acids, including (Trp, a precursor of niacin), causing elevated amino acid excretion in urine and feces

HASHIMOTO'S THYROIDITIS first described in 1920, goitrous chronic autoimmune thyroiditis; in areas with sufficient iodine, elevated TSH is often viewed as evidence of chronic autoimmune thyroiditis as well as antithyroid antibodies; antithyroglobulin antibodies in 60% of patients and antithryoid microsomal antibodies in 95%

HATCHCOCK'S SIGN upward pressure applied to the angle of the mandible (ramus) produces tenderness with mumps but no tenderness with adenitis

HAWTHORNE EFFECT the effect (usually positive or beneficial) of being under study, upon the persons being studied; their knowledge of the study often influences behavior [city in Illinois; site of the Western Electric plant]

HEBERDEN'S NODES characteristic in women, but not in men, represent prominent osteophytes at the DIP joints in OA (enlargements of tubercles at the articular extremities of the distal phalanges

HEERFORDT-WALDENSTRÖM SYNDROME sarcoidosis associated with fever, parotid enlargement, anterior uveitis, and facial nerve palsy

HEGAR'S SIGN softening of the uterus at the junction between the cervix and the fundus during the first trimester of pregnancy

HEINEKE-MUKULICZ PYLOROPLASTY longitudinal incision through all layers of the pylorus, sewed closed in a transverse direction to make the pylorus nonfunctional (used after truncal vagotom)

HEINZ BODIES seen in unstable hemoglobin and oxidant stress; precipitates of denatured hemoglobin on red blood cells; only visible when blood is supravital stained (crystal violet); not seen on routine blood smears

HEISTER, SPIRAL VALVES OF found in the neck of the gallbladder, where tiny folds of mucosal epithelium coalesce to form these valves, may assist in retaining bile between meals

HEMOGLOBIN BART'S four gamma globin chains, seen in hydrops fetalis (alpha thalassemia), very high oxygen affinity

HEMOGLOBIN GOWER embryonic, primitive hemoglobin. Gower 1, zeta2 episilon2,; Gower 2, alpha2 epsilon2

HEMOGLOBIN LEPORE no beta chain; delta chain by delta-beta hybrid

HEMOGLOBIN PORTLAND zeta2gamma2, primitive embryonic hemoglobin

HENOCH-SCHÖNLEIN PURPURA systemic hypersensitivity disease of unknown cause characterized by purpuric rash, colicky abdominal pain (presumably due to focal hemorrhages into the GI tract), polyarthralgia, and acute glomerulonephritis; may result from deposition of circulating immune complexes within stuff; hypersensitivity purpura, etiology group A streptococci

HERING, CANALS OF at the fringes of the portal tract, from the joining of bile canaliculi

HERING'S NERVE carotid sinus nerve, CN IX, carries information to the vasomotor center in the brainstem

HERING-BREUER REFLEX stretch receptor (in smooth muscle of airways) reflex, responsible for apnea, i.e. decreased breathing frequency, as a result of lung inflation

HERLITZ SYNDROME epidermolysis bullosa lethalis; mutation that prevents the folding of laminin 5 Gillis Herlitz, Swedish pediatrician, born 1902

HERMANSKY-PUDLAK SYNDROME characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis from defects of multiple cytoplasmic organelles: melanosomes, platelet dense granules and lysosomes.

HERRING BODIES neurosecretory granules consisting of either vasopressin or oxytocin in neurohypophysis

HESS TEST see Rumpel-Leede sign. Noticed phenomenon while treating children with scurvy.

HESSELBACH'S TRIANGLE where direct inguinal hernias occur, bound by the inguinal ligament, inferior epigastric a., and rectus abdominus muscle

HILL'S SIGN in aortic regurgitation, refers to popliteal cuff systolic pressure exceeding brachial cuff pressure by more than 60 mm Hg

HIPPOCRATIC FINGERS clubbing

HIPPOCRATICA, FACIES the mask of death following peritonitis, i.e. as a result of vomiting and depressed circulation, the face becomes pinched and anxious, the cheeks hollow, and the eyes dim and beringed with dark circles

HIRANO BODIES in Alzheimer's, intracytoplasmic proximal dendritic eosinophilic inclusions consisting of actin

HIRSCHPRUNG'S DISEASE megacolon; congenital disorder characterized by colonic dilatation proximal to an aganglionic, contracted distal colon and rectum; caused by gestational failure of neural crest cells to migrate to distal colon; an AD form has been reported with mutations of the RET gene, and an AR form with mutation of the endothelin-B-receptor gene

HODGKIN'S DISEASE lymphoma characterized by arising in a single node or chain of nodes, spreading in anatomically contiguous nodes, Reed-Sternberg cells, three subtypes (nodular sclerosis (most common, more common in women), mixed cellularity, lymphocyte predominance (lymphocyte depletion rarer))

HOFFMAN'S SIGN involuntary flexion of the digits when tapping or striking over the plamar digital aspects of the 2nd, 3rd, and 4th digits in upper motor neuron defect

HOLLENHORST PLAQUES cholesterol emboli visible as small bright flecks lodged in arterial bifurcations in retina

HOLME'S HEART single ventricle with normally-related great arteries

HOLMES-ADIE SYNDROME Adie's pupil, frequently affects young women, benign familial disorder that may be associated with depressed DTRs (especially in legs), segmental anhidrosis, orthostatic hypotension, or cardiovascular autonomic instability, may be caused by degeneration of ciliary ganglion, followed by aberrant reinnervation of the pupilloconstrictor muscles

HOLT-ORAM SYNDROME AD syndrome, dysplasia of the upper limbs and atrial septal defect, reduction anomalies of the upper limbs, heart hand syndrome from mutation in TBX5

HOMAN'S SIGN deep thrombi in the larger outflow veins, causing edema of the foot and ankle and producing pain and tenderness on compression of the calf muscles (by either squeezing the calf muscles or forced dorsiflexion of the foot)

HOMER-WRIGHT PSEUDOROSETTES in neuroblastoma, tumor cells arranged about a central space filled with fibrillar extensions of the cells

HONEYMOONER'S PALSY radial nerve palsy from compression of nerve between middle third of the humerus between the brachoradialis and forearm extensor muscles

HOOVER'S SIGN a modification in the movement of the costal margins during respiration, caused by a flattening of the diaphragm; suggestive of empyema or other intrathoracic condition causing a change in the contour of the diaphragm

HOOVER'S SIGN in hysterical weaknes, patient does not push down into your hand when you ask patient to lift weak extremity

HORNER'S SYNDROME enophthalmos, ptosis, miosis, and anhidrosis, unilateral; small (miotic) pupil associated with mild ptosis (of the upper lid, not as pronounced as with oculomotor lesions) and sometimes loss of sweating (anhidrosis); if present since infancy, the ipsilateral iris is lighter and blue (heterochromia iridis); topical 4% cocaine will dilate normal pupil but not a desympathectomized pupil

HOUNDSFIELD UNIT scale named after inventor of CT, water 0 H, -1024 for air to 3000-4000 H for bone, relative scale

HOWELL-JOLLY BODY in asplenia or malfunctional spleen, nuclear remnants on red blood cells as small, round, darkly-stained nuclear fragments; no special stains necessary; may be seen in 30-50% of adults but not in children with untreated celiac sprue

HOWSHIP'S LACUNAE resorption pits on bone formed by osteoclasts

HOWSHIP-ROMBERG SIGN pain along the inner aspect of the thigh; seen with an obturator hernia due to nerve compression

HUNTER'S SYNDROME mucopolysaccharidosis (II), iduronate sulfatase deficiency, X-linked, affecting degradation of dermatan sulfate and heparan sulfate, resulting in physical deformity and mental retardation, no corneal clouding

HUNTINGTON'S DISEASE autosomal dominant from expanded CAG trinucleotide repeat 4p16.3 associated with chorea initially as restlessness, psychiatric symptoms, and dementia; Westphal variant, atypical variant where there is progressive rigidity and akinesia with little or no chorea

HURLER'S SYNDROME AR mucopolysaccharidosis (I H) that is caused by deficiency of alpha-L-iduronidase, with consequent accumulations of the mucopolysaccharides heparan sulfate and dermatan sulfate in the heart, brain, liver, and other organs; progressive deterioration, hepatosplenomegaly, dwarfism, gargoyle-like facies, stubby fingers, corneal clouding, progressive mental retardation, and death by age 10

HURST'S DISEASE acute hemorrhagic leukoencephalitis

HÜRTHLE CELLS in Hashimoto's thyroiditis, deeply stained colloid or clusters of these oncocytes having an abundant, brightly eosinophilic granular cytoplasm, thought to represent a degenerated state of the follicular epithelium

HUTCHINSON FRECKLE lentigo maligna, a nonfamilial precursor to lentigo maligna melanoma

HUTCHINSON PUPIL blown third pupil in uncal herniation

HUTCHINSON'S SIGN in herpes zoster ophthalmicus, vesicular rash at nasal tip indicating involvement of the external nasal branch of CN V associated with increased incidence of ocular zoster

HUTCHINSON'S SIGN pigment in the paronychial area suggesting melanoma

HUTCHINSON'S TEETH smaller and more widely spaced than normal and are notched on their biting surfaces; sign of congenital syphilis

HUTCHINSON'S TRIAD congenital syphilis manifesting late at around 2 years old with triad of interstitial keratitis, notched incisors, and eighth nerve deafness

HUTCHINSON-GUILFORD SYNDROME aka progeria a condition in which the normal development of the first year is followed by gross retardation of growth, with a senile appearance characterized by dry wrinkled skin, total alopecia, and bird-like facies; genetics unclear