Eponyms (C-E): Difference between revisions

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C

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

In left bundle branch block complicated by myocardial infarction, notching at 0.05 s in ascending limb of S wave in V3, V4; 27% sensitive for MI.

Cacchi-Ricci disease

Medullary sponge kidney disease.

CADASIL

Cerebral Autosomal Dominant Arteropathy with Subcortical Infarcts and Leukoencephalopathy, a rare hereditary cause of stroke that may involve Notch3 gene characterized by recurrent strokes (usually infarcts) and dementia.

Cagot ear

Absence of ear lobe; associated with region in Pyrennes.

caisson disease

Decompression sickness.

Cajal, interstitial cells of

Cells present as networks of cells associated with neural plexues within gut musculature; required for normal intestinal motility.

Calabar swellings

In loiasis, swellings 5-10 cm in diameter from localized areas of angioedema associated with migration of adult Loa loa worms through subcutaneous tissues.

Call-Exner bodies

In granulosa cell tumors involving ovary, small follicles filled with eosinophilic secretion; an important diagnostic feature.

Call-Fleming syndrome

Sudden-onset severe headache, focal neurological deficits, and seizures; associated with serotonin modulating drugs like SSRIs.

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.

Cameron lesions

Erosions within incarcerated hiatal hernias, seen in 5.2% of patients with hiatal hernias.

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.

Campbell's sign

In chronic airway obstruction, downward motion of trachea during inspiration, perhaps due to downward pull of diaphragm.

Camurati-Engelmann disease

Progressive diaphyseal dysplasia; autosomal dominant, characterized by hyperosteosis and sclerosis of the diaphyses of long bones; associated with mutations in TGF beta 1.

Canale-Smith syndrome

Childhood disorder, first described in 1967, characterized by lymphadenopathy and autoimmunity with lymphadenopathy, hepatosplenomegaly, hemolytic anemia, and thrombocytopenia; associated with mutations in Fas.

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

Line that 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

Rare syndrome characterized by diaphragmatic defect (hernia), cardiac abnormality, omphalocele, pericardium malformation/absence, sternal cleft. X-linked dominant inheritance.

Capgras syndrome

Delusional belief that one or a few highly familiar people have been replaced by impostors who are physically very similar to the originals; seen rarely in schizophrenia; see also Fregoli syndrome.

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.

Carabello's sign

In severe aortic stenosis, during catheterization across aortic valve, an augmentation of the peripheral systolic pressure of more than 5 mm Hg during aortic pullback; from catheter further increasing the severity of the stenosis and removal resulting in a transient increase in stroke volume and systolic pressure (Am J Cardiol 1979;44:424–7).

Carey Coombs murmur

A blubbering apical mid diastolic murmur occurring in the acute stages of rheumatic mitral valvulitis and disappearing as the valvulitis subsides; described by Carey F. Coombs, English physician, 1879-1932.

Carnett's test

In abdominal wall conditions, e.g. rectus hematoma, tenderness persists with head raise, whereas pain from intraperitoneal disease decreases.

Carney complex

Autosomal dominant complex of cardiac myxomas with aggressive biologic behavior, spotty pigmentation, and association with endocrine tumors (causing e.g., Cushing syndrome); mutations in PRKAR1alpha gene (a protein kinase) account for half of the cases; unrelated to Carney syndrome.

Carney syndrome

Nonfamilial disorder that includes combination of three rare tumors: gastric leiomyosarcoma, pulmonary chondroma, extraadrenal paraganglioma but no cardiac manifestations; unrelated to Carney complex.

Carney triad

See Carney syndrome. Unrelated to Carney complex.

Carney-Stratakis syndrome

Association of paraganglioma and gastrointestinal stromal tumor. Associated with mutations in SDHB, SDHC, and SDHD genes.

Caroli's disease

Segmental dilatation of ducts of the intrahepatic biliary tree and may contain inspissated bile; pure forms are rare; this disease is usually associated with portal tract fibrosis of the congenital hepatic fibrosis type.

Carpentier-Edwards valve

Porcine valve, pressure-fixed, preserved in glutaraldehyde, mounted on a Teflon-covered Elgiloy strut.

Carrión's disease

See Oroya fever.

Carvajal syndrome

Dilated cardiomyopathy, wooly hair, and keratoderma; associated with mutation in desmoplakin.

Carvallo's sign

In tricuspid regurgitation, murmur increases with inspiration.

Castellani's paint

Topical fungicidal and bactericidal mixture of resorcinol (8 g), acetone (4 mL), magenta (0.4 g), phenol (4 g), boric acid (0.8 g), industrial methylated spirit 90% (8.5 mL), and water (to 100 mL); particularly effective against intertriginous tinea and acute Candida paronychia; named after Sir Aldo Castellani.

Castle intrinsic factor

Intrinsic factor secreted by parietal cells, which binds luminal B12 and permits its absorption in the ileum.

Castleman's disease

Lymphoproliferative disorder, either localized or multicentric; presents with massive lymphadenopathy, fever, splenomegaly, hepatomegaly; characterized by hyperplastic lymphoid follicles with capillary proliferation; associated with HHV 8; HIV-infected individuals at increased risk for multicentric Castleman's disease; multicentric can progressive to lymphoma.

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.

Centor criteria

Predictive model for diagnosing group A Streptococcal pharyngitis: (1) tonsillar exudates, (2) tendor anterior cervical adenopathy, (3) fever by history, and (4) absence of cough. When 3 of 4 criteria present, PPV 40-60%; absence of at least 3 criteria, NPV 80%. See Med Decis Making 1981; 1:239.

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 also 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.

Chamberlain procedure

Anterior mediastinotomy for staging lung cancer, direct approach into the mediastinum from the left second intercostals space; allows biopsy of AP window nodes which are the first N2 nodes for left upper lobe tumors.

Chapman's sign

In left bundle branch block complicated by myocardial infarction, notching of ascending limb of R in I, aVL, or V6.

Char syndrome

Heart-hand syndrome characterized by unusual facial features including long philtrum, down-slanting palpebral fissures, thick lips as well as patent ductus arteriosus and abnormal fifth digits. From mutation in TFAP2B.

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, autosomal dominant, heterogeneous disorder characterized by slowly progressive atrophy of the distal muscles, mainly those innervated by peroneal nerve; progressive weakness of 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.

Charcot's disease

French eponym for amyotrophic lateral sclerosis.

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; see also Reynold's pentad.

CHARGE association

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, generally occurring in visually-impaired individuals; patients realize unreality of hallucinations; first described by Swiss philosopher Charles Bonnet in 1760.

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

Recurrent pyogenic infections, partial albinism, multiple neurologic abnormalities; due to mutation in LYST; gene involved in intracellular protein transport to and from lysosome; neurologic abnormalities include photophobia, nystagmus, peripheral neuropathy, etc. Associated with neutropenia, defective degranulation, delayed microbial killing; abnormal giant granules in neutrophils.

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 congestive heart failure but also in meningitis, strokes, pontine damage, etc.

Chiari-Frommel syndrome

Persistent galactorrhea-amenhorrhea after pregnancy.

Chikungunya fever

Alphavirus and arbovirus, cycles of activity every 5-10 years; resembles dengue fever, characterized by severe arthritis; spread by Aedes mosquitoes, speculated as risk factor for Burkitt's lymphoma. "Chikungunya" is derived from the Makonde word meaning, "that which bends up."

Chilaiditi syndrome

When redundant loops of transverse colon slip between the liver and diaphragm and cause vovulus.

Child-Pugh classification system

Classification for severity of liver disease according to degree of ascites, bilirubin, albumin, prothrombin time, and encephalopathy; initially used to predict mortality after surgery.

Christmas disease

Hemophilia B, deficiency in factor IX. First coagulation protein to be named after a patient, Stephen Christmas.

Churg-Strauss syndrome

Allergic angiitis and granulomatosis involvement in the lung, associated with eosinophilia. Asthma is main feature (occurs in 95%) and precedes vasculitic phase by 8-10 years; 2/3 of patients have skin lesions (subcutaneous nodules on extensor surfaces); 70% have P-ANCA; 4/6 following criteria 85% sensitive and 99.7% specific: asthma; eosinophilia>10%; neuropathy; pulmonary opacities; paranasal sinus abnormality; biopsy of blood vessel showing eosinophils in extravascular area.

Chuvash polycythemia

Autosomal recessive disorder with features of both primary and secondary polycythemia, endemic to the mid-Volga River region of Russia (Chuvas); associated with homozygous mutation Arg200Trp in VHL gene (gene associated with von Hippel-Lindau syndrome); mutation impairs interaction of VHL with hypoxia-inducible factor 1 protein (HIF), allowing HIF to avoid destruction.

Chvostek sign

Seen in hypocalcemia, this sign represents latent tetany, where tapping the facial nerve against the bone just anterior to the ear produces ipsilateral contraction of facial muscles. However, there is poor clinical utility to this, as 25% of healthy individuals (43% between the ages of 20 and 29 years) have a positive Chvostek sign, and 29% of patients with hypocalcemia do not.

Civatte bodies

Also known as colloid bodies; in lichen planus, anucleate, necrotic basal cells becoming incorporated into the inflamed papillary epidermis.

Clagett's procedure

For treating empyema, open drainage followed by instillation of antibiotic solution.

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 syndrome and Benedikt's syndrome).

Clay Shoveler's fracture

Fracture of the spinous process of a lower cervical vertebra (most commonly, C7) and is usually a stress fracture. Although often found incidentally, they can be seen after motor vehicle collisions, rapid spine extension, or direct trauma to the spine.

Clemmesen's hook

Change in rates of breast cancer following menopause. First described in 1948.

Clerambault's syndrome

Erotomania, delusional belief that someone (usually of higher social status) is in love with the person.

Clichy criteria

Criteria for liver transplantation in fulminant hepatic failure: hepatic encephalopathy, and factor V level < 20% in patients younger than 30 y.o. and factor V level < 30% in patients > 30 y.o.

Cloquet's node

First lymph node underneath the inguinal ligament; can be mistaken for femoral hernia when enlarged.

Clutton's joints

In congenital syphilis, symmetrical arthrosis, especially of the knee joints.

Coats's disease

Rare eye disorder also known a retinal telangiectasis, arising from defect in retinal vascular development, leading to full or partial unilateral blindness; tends to occur in males in first decade.

Cobb syndrome

Association between cutaneous hemangiomas and intramedullary and paraspinal arteriovenous malformations at the same metamere; not familial; first reported by Cobb in 1915.

Cockayne's syndrome

A form of progeria characterized by dwarfism, 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, weight: [(140-age) x lean body weight (in kg)]/[plasma creatinine (in mg/dL) x 72]; in women, multiplied by 0.85 because of smaller muscle mass.

Codman's triangle

In osteosarcoma, the triangular shadow between the cortex and raised ends of periosteum. Characteristic but not diagnostic of osteosarcoma.

Cogan syndrome

Multisystem inflammatory vascular disease particularly of the CNS characterized by eye (interstitial keratitis) and ear (vestibuloauditory) involvement; can be associated with aortitis; peak incidence third decade of life.

Cole-Carpenter syndrome

Craniosynostosis, ocular proptosis, associated with severe bone fragility and deformity.

Coley's toxin

Mixture of toxins from Strep and Serratia marcesens used by William Coley in the late 1800s to treat malignancy; active agent found to be lipopolysaccharide.

Colles's fracture

Fracture of the distal radius, extra-articular; classically occurs when persons fall with outstretched hands.

Collet-Sicard syndrome

Acquired palsy of all lower four cranial nerves (IX, X, XI, and XII); can occur in occipital fracture, burst fracture of cervical vertebra, carotid dissection, malignancy; described by Frederic Collet and Jean Sicard;.

Collier's sign

Lid retraction in lesion of posterior commissure.

Conn's syndrome

Primary hyperaldosteronism, caused by an aldosterone-secreting tumor, resulting in hypertension, hypokalemia, hypernatremia, metabolic alkalosis, and low plasma renin.

Conradi-Hunermann syndrome

Chondrodysplasia punctata, characterized by stippled epiphyses from abnormal accumulation of calcium salts and skeletal changes.

Conradi-Hunermann-Happle syndrome

X-linked dominant variant of Conradi-Hunermann syndrome or chondrodysplasia punctata, associated with linear ichthyosis, cataract, and short stature; associated with mutation in delta8-delta7 sterol isomerase emopamil binding protein, a protein involved in cholesterol metabolism.

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.

Coopernail's sign

Ecchymosis of the perineum and scrotum or labia, reflecting pelvic fracture. Named after George Peter Coopernail, American physician (1876-1962).

Cooper's hernia

Hernia through the femoral canal and tracking into the scrotum or labia majus.

Cope's syndrome

Subacute milk-alkali syndrome; see also Burnett's syndrome.

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; also known as Forbes disease.

Cornelia de Lange syndrome

Complex developmental disorder consisting of characteristic facial features, upper limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and developmental retardation. From mutation in NIPBL, which encodes a member of the cohesin complex.

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.

Costello's syndrome

Syndrome of prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and an outgoing, friendly behavior. Associated with mutation in HRAS.

Costen's syndrome

Ear pain, tinnitus, impaired hearing, and dizziness from temporomandibular joint dysfunction.

Cotard's syndrome

Range of delusions from believing that one has lost organs to belief that one is dead or does not exist; seen in schizophrenia and also in organic lesions of the nondominant temporoparietal cortex as well as in migraine.

Coumel's sign

Prolongation of the tachycardia cycle length in the presence of an ipsilateral bundle branch block and bypass tract.

Coumel's triangle of arrhythmogenesis

Three factors in arrhythmogenesis: (1) the arrhythmogenic substrate, (2) the trigger factor, and (3) the modulation factors (the most common being the autonomic nervous sytem).

Councilman bodies

Apoptotic hepatocytes that are rounded up, shrunken, pyknotic, and intensely eosinophilic bodies. May be seen in yellow fever and other viral hemorrhagic fevers.

Courvoisier gallbladder

An enlarged gallbladder due to noncalculous (e.g. from tumor) obstruction of cystic or common bile duct; see Courvoisier's law.

Courvoisier's law

Tumors that obstruct the common bile duct result in an enlarged bladder; obstructing stones do not result in enlarged gallbladder, since the gallbladder is typically too scarred to allow enlargement; present in half of pancreatic cancer.

Couvelaire uterus

Penetration of the uterine myometrium from hemorrhage during delivery; may occur as a consequence of placental abruption.

Cowden disease

Autosomal dominant condition associated with multiple hamartomatous lesions, especially of the skin, mucous membranes, GI tract, breast and thyroid; associated with trichilemmomas (multiple skin-colored warty papules); associated with mutations in PTEN/MMAC1.

Cowdry body

Intranuclear inclusion seen in herpes virus infection.

Cowper's gland

Bulbourethral gland; small glands located beneath the prostate; involved in pre-ejaculatory secretions; homologous to Bartholin's gland; named after English anatomist William Cowper (1666-1709).

Cox maze procedure

Surgical procedure developed in 1987 for atrial fibrillation where a tortuous path is created between the SA node to the AV node and incisions are placed so that atrial fibrillation cannot be sustained.

Creutzfeldt-Jakob disease

Transmissible spongiform encephalopathy, a 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

Syndrome associated with 5p deletion, with 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, phenobarbital induces activity.

Crohn's disease

Transmural mucosal inflammation that may involve the entire GI tract from mouth to the perianal area that often leads to fibrosis and obstructive clinical presentations; 80% small bowel involvement, usually distal ileum; 1/3 exclusively ileitis; 50% ileocolitis; and 20% disease limited to colon.

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.

Crowe's sign

Axillary or inguinal freckling seen in 20-50% of neurofibromatosis.

Crow-Fukase syndrome

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes); known as Crow-Fukase syndrome in Japan.

Cruveihiler-Baumgarten bruit

Bruit heard over caput medusa in portal hypertension.

Cullen's sign

A faintly blue coloration, particularly of the umbilicus, as a result of retroperitoneal bleeding from any cause, but especially in ruptured ectopic pregnancy. Also seen in acute pancreatitis (1-2%). See also Grey Turner's sign.

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.

Currarino syndrome

Childhood familial idiopathic osteoarthropathy. Due to mutation in HLXB9.

Currarino triad

Partial sacral agenesis with intact first sacral vertebra resembling a sickle; a presacral mass, and anorectal malformation; associated with a mutation in a homeobox gene, HLXB9.

Currarino-Silverman syndrome

Premature obliteration of sternal sutures; associated with pectus carinatum appearance.

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 with compression of the cerebral blood vessels and cerebral ischemia leading to triad of 1. elevation in pressure with 2. simultaneous reduction in heart rate, and 3. respiratory slowing.

Cushing's disease

Hypercortisolism from pituitary corticotropin-secreting corticotroph tumors, leading to abnormally high ACTH levels. Tumors are generally benign and usually microadenomas.

Cushing's syndrome

Hypercortisolism, as in from Cushing's disease or from exogenous glucocorticoids.

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 and gastric acid hypersecretion.


D

Da Costa syndrome

Neurocirculatory asthenia or "soldier's heart", pain localized typically to the cardiac apex and consists of dull, persistent ache that lasts for hours without underlying cardiac disease; due to an anxiety disorder.

Dabska tumor

Rare, low-grade angiosarcoma that affects skin of children, also known as endovascular papillary angioendothelioma

Dacie's syndrome

Idiopathic hyperplastic enlargement of the spleen with anemia and neutropenia; progression to lymphoma in some cases.

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 (after Dahl in Arch Dermatol 1970; 101:117).

Dakin's solution

Dilute solution of sodium hypochlorite (0.5%) used for cleaning wounds.

Dallas criteria

For histologic diagnosis of myocarditis, active myocarditis if infiltrating lymphocytes and myocytolysis seen; borderline if only lymphocytic infiltration; and negative if both absent; introduced in 1986. Named after meeting in Dallas, TX coinciding with American College of Cardiology meeting in Dallas.

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.

Damus-Kaye-Stansel procedure

Repair of congenital transposition of the great arteries of the heart by dividing the pulmonary artery and attaching the proximal section to the ascending aorta and connecting distal section to right ventricle.

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 hepatitis B virion, 42 nm, double-layered, genome is double-stranded circular DNA. All regions of genome are encoding.

Darier's sign

In mastocytosis (urticaria pigmentosa), sign 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.

Darier-White disease

Keratosis follicularis; autosomal dominant disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and nail abnormalities; associated with mutation in SERCA2 Ca(2+)-ATPase.

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

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 sclerosis, perivascular demyelination creating the appearance of finger projections oriented transversely on an axial scan.

De Garengeot's hernia

Appendix in a femoral hernia sac. Compare with Amyand's hernia.

De Morsier syndrome

Septooptic dysplasia, characterized by combination of optic nerve hypoplasia, pituitary hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. Associated with mutation in HESX1.

de Musset's sign

In aortic regurgitation, head bobbing, named after 19th century French poet who had aortic insufficiency from syphilis.

de Quervain's tenosynovitis

A stenosing tenosynovitis of the thumb extensors and abductors; pain elicited with Finkelstein's test.

de Quervain's thyroiditis

Subacute granulomatous thyroiditis, viral etiology suspected.

Degos disease

Malignant atrophic papulosis; multisystem lymphocytic vasculitis characterized by thrombosis primarily of cutaneous small vessels as well as small vessels in GI tract, ocular, and CNS; has characteristic porcelain white atrophic lesion.

Deiters's nucleus

Lateral vestibular nucleus; site of termination of many vestibular nerve ascending branches.

Dejerine-Roussy syndrome

Thalamic lesions leading to sensory loss, spontaneous pain, and hypersensitive cutaneous sensations; 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.

Delphian nodes

Lymph nodes in midline of the thyrohyoid membrane; can be involved in thyroid cancer or subacute thyroiditis.

Dennie's lines

In atopic dermatitis, an accentuated line or fold below the margin of the lower eyelid.

Denonvillier's fascia

Fascia that separates prostate and seminal vesicles from rectum.

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.

Denver shunt

For treating refractory ascites, peritoneovenous shunt connecting peritoneum and central venous system, compare with LeVeen shunt; Denver shunt uses valve that lies within a fluid-filled, compressible silicone chamber.

Denys-Drash syndrome

Gonadal dysgenesis (male pseudohermaphroditism) and nephropathy leading to renal failure (nephrotic syndrome); increased risk of Wilms's tumor; dominant negative missense mutation of WT-1 gene.

Dercum's disease

Adipositas dolorsa, condition tending to affect obese women in middle age, mostly menopausal, consisting of multiple exquisitely tender lipomas.

Desçemet's membrane

Membrane that forms the deepest layer of the cornea and functions as thin basement membrane for endothelium; location where copper is deposited in Kayser-Fleischer rings of Wilson's disease.

D'Espine's sign

Breath sounds louder over C7 vertebra than adjacent lung, suggests lesion in posterior mediastinum, e.g. lymphoma, tuberculosis, etc.

Destot's sign

Scrotal hematoma suggesting pelvic fracture.

Deutschlander's fracture

Fracture from overuse, e.g. marching.

Devic's disease

Neuromyelitis optica; relapsing-remitting demyelinating disorder characterized by bilateral optic neuritis and transverse myelitis occurring in rapid succession. More common in Asians; distinct from multiple sclerosis.

Devon family syndrome

Inherited condition characterized by inflammatory fibroid polyps, typically in stomach or ileum.

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 erythropoietin sensitivity; 20-30% recover spontaneously. Non-responders can be treated with bone marrow transplant.

Dick test

Injection of erythogenic toxin of Strep. pyogenes; erythematous reaction in individuals lacking antitoxin/exposure to Strep. pyognes. Used in the past to identify children susceptible to scarlet fever. See also Schultz-Charlton phenomenon.

Dietl's crisis

Episodic renal colic and hydronephrosis caused by "kinking" of ureter due to a "floating" kidney (nephroptosis) or pressure from an artery. Historically, nephropexy was used, though no longer practiced.

Dieulafoy lesion

An uncommon cause of massive GI bleeding from erosion of large submucosal artery into the gastric mucosa without any overlying ulceration or other obvious mucosal damage; located around 6 cm from the gastroesophageal junction.

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. Seen in 22q11 deletion, see also mnemonic CATCH-22 (cardiac abnormality/abnormal facies, T-cell deficit owing to thymic hypoplasia, cleft palate, and hypocalcemia).

DiGuglielmo's disease

Acute myelogenous leukemia M6, erythroleukemia; felt to emerge from myelodysplastic state.

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 underlying 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. If rotational nystagmus seen, felt to be positive for BPV.

Dobrin's syndrome

TINU syndrome (tubulointerstitial nephritis with uveitis), associated with bone marrow granulomas, first described in 1975.

Dock's murmur

In left anterior descending artery stenosis, diastolic murmur similar to that of aortic regurgitation.

Doderlein's lactobacilli

Lactobacillus acidophilus; metabolizes the glycogen in glycogen rich cells which are exfoliated in the vagina pre-menopause to lactic acid, resulting in a decrease in pH to 3.5-4.

Döhle bodies

In neutrophil cytoplasm, irregularly shaped blue to gray-blue inclusions, consisting of ribosomes and/or rough ER; seen in severe bacterial infections.

Doi's sign

Elicitation of diminished deep tendon reflexes after maximal voluntary contraction in Lambert-Eaton myasthenic syndrome.

Donath-Landsteiner antibody

In paroxysmal cold hemoglobinuria, an antibody associated with syphilis and viral infections, directed against the P red cell erythrocyte antigen 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.

Donnai-Barrow syndrome

Syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia.

Donohue syndrome

Leprechaunism.

Donovan bodies

In Calymmatobacterium granulomatis or granuloma inguinale, bodies characterized by multiple organisms filling large histiocytes.

Dor procedure

Endoventricular circular patch plasty, a surgical procedure for treating postinfarction aneurysm where a purse string stitch is sewed around the aneurysm.

Dorello's canal

Location where the sixth nerve penetrates the dura, an area where the nerve is liable to injury.

dory flop

In chancre from syphilis involving the prepuce, refers to the motion of a dory, a small wooden fishing boat, which flips over all at once when overturned.

Douglas, pouch of

Rectouterine pouch.

Down syndrome

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

Dravet syndrome

Severe myoclonic epilepsy of infancy; half of patients associated with severe cognitive impairment; associated with mutations in the voltage-gated sodium channel SCN1A

Dressler's beat

Fusion beat seen in ventricular tachycardia.

Dressler's syndrome

Pericarditis, possible autoimmune etiology, found to develop 2 weeks to several months after acute myocardial infarction.

Druckrey relationship

Relationship between carcinogen dose and tumor induction time: dt^n = 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.

Drummond, marginal artery of

Vessel which lies along mesenteric border of colon and supplies vasa recta; arises from right and left branches of middle colic artery and left and right colic arteries; also supplies collateral connection between superior and inferior mesenteric arteries.

Duane's syndrome

Form of strabismus, congenital absence of cranial nerve VI, resulting in impaired abduction and/or adduction and eyeball retraction and narrowing of palpebral fissure during adduction of affected eye.

Dubin-Johnson syndrome

Benign autosomal recessive condition of 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; due to mutations in ABCC2 (canalicular multispecific organic anion transporter).

Dubowitz syndrome

Malformation syndrome characterized by intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual facies.

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, see also Gower's maneuver. Characterized by pseudohypertrophy of calves caused by fatty infiltration, cardiomyopathy, frequently mental retardation, CK elevated, wheelchair bound by age of 12; see also Becker's muscular dystrophy.

Duffy blood group system

Named after Mr. Duffy, a patient with hemophilia in whom anti-Fya was discovered by Cutbush in 1950; abbreviation Fy used because "Du" had already been taken; Fy6 antigen is the receptor for Plasmodium vivax.

Duke criteria for endocarditis

Criteria for endocarditis, including two major criteria (typical blood culture and positive echocardiogram) and six minor criteria (predisposition, fever, vascular phenomena, immunologic phenomena, suggestive echocardiogram, and suggestive microbiologic findings); described at Duke University in 1994.

Dukes staging

Staging system for colon cancer; described by Cuthbert Esquire Dukes (1890-1977) in the Journal of Pathology in 1932.

Dukes's disease

Fourth disease; see Filatov-Dukes's disease.

Duncan's disease

Also known as X-linked lymphoproliferative syndrome. Individuals have normal response to childhood infections but later fatal lymphoproliferative disorders after infection with EBV; most patients with this syndrome die of infectious mononucleosis.

Dunnigan syndrome

Face-sparing partial lipodystrophy, loss of subcutaneous fat and increase in visceral fat, causing muscular appearance in arms and legs, due to mutation in laminin A/C.

Dunphy sign

Increased pain with coughing in appendicitis.

Dupuytren's contracture

Palmar fibromatosis or flexion contracture; most commonly affects ring finger and little finger. Described by Baron Guillaume Dupuytren, a surgeon who developed a procedure to correct it.

Durant's maneuver

Left lateral decubitus position, used in managing air embolism.

Duret hemorrhage

Hemorrhage from uncal herniation.

Durkan's test

For testing carpal tunnel syndrome, direct compression of median nerve to 150 mm Hg via bulb for 30 seconds; alternatively using both thumbs.

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 immunoglobulin in the nucleus of lymphocytes, plasma cells, and intermediate lymphocytes in Waldenström's macroglobulinemia and multiple myeloma.

E

Eagle effect

Failure of penicillin in streptococcal infection when bacteria are not growing, i.e., beta-lactams being more effective against rapidly growing bacteria in the early stages and less effective as bacterial growth slows. Described by Eagle in 1952.

Eagle-Barrett syndrome

Prune-belly syndrome with triad of abdominal muscle deficiency, urinary tract abnormalities, and cryptorchidism.

Eales's disease

Isolated, peripheral retinal vasculitis.

Ebstein's anomaly

Congenital heart disease with downward displacement of the tricuspid valve into the right ventricle due to anomalous attachment of the tricuspid leaflets; associated with maternal exposure to lithium.

economy class syndrome

pulmonary embolism after travel, described by Symington and Stack in Br J Dis Chest 1977; 71:138-40.

Edeiken pattern

Normal variant ST segment elevation seen V2 or V3 where there is a shallow upward concavity; pattern disappears when leads are recorded one interspace lower than usual (Am Heart J 1954;48:331).

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.

Ehrlich's reaction

Reaction where p-dimethylaminobenzaldehyde reacts with urobilinogen in a strong acid medium to produce a brown-orange color.

Eisenmenger complex

Congenital heart disease with 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 Eisenmenger complex or any anomalous circulatory communication from e.g. congenital heart disease that leads to obliterative pulmonary vascular disease.

Ekbom syndrome

Restless leg syndrome.

Ekiri syndrome

Extremely rare, fatal encephalopathy described in Japanese children with Shigella sonnei or Shigella flexneri infections.

Elejalde syndrome

Neuroectodermal melanolysosomal disease characterized by silvery hair, CNS dysfunction, abnormal melanocytes and melanosomes, and abnormal inclusion bodies in fibroblasts and other cells; similar dermatologic features to Chédiak-Higashi syndrome and Griscelli syndrome but without defect in immune system.

Ellis-van Creveld syndrome

Chondroectodermdal dysplasia, short-limbed dwarfism, polydactyly, single atrium or atrial septal defect, autosomal recessive, reported most often in Amish. Associated with mutation in EVC gene.

Ellsworth-Howard test

For diagnosis of pseudohypoparathyroidism, assessing for phosphaturia in response to exogenous PTH.

Elschnig spots

In hypertensive retinopathy, yellow (early) or hyperpigmented (late) patches of retinal pigment epithelium overlying infarcted choriocapillaris lobules.

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.

Epley maneuver

In benign paroxysmal positional vertigo, a treatment maneuver for moving calcium carbonate debris to the common crus of the anterior and posterior canals and exit into the utricular canal; symptoms are improved in 90% of patients with no recurrence in 50-70% (also see Semont maneuver and Brandt-Daroff exercises).

Epping jaundice

Outbreak of jaundice that occurred in 84 individuals after ingestion of bread made with flour contaminated with 4,4'-diaminodiphenylmethane in England in 1965.

Epsom salts

Magnesium sulfate, can be used as laxative.

Epstein-Barr virus

Member of herpesvirus family; causes mononucleosis 35-50% when infection occurs in adolescence or young adulthood. Associated with Burkitt's lymphoma and nasopharyngeal carcinoma. 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.

Epstein's pearls

Small, white cysts along the median raphe of the hard palate.

Erb's palsy

Upper plexus palsy affecting C5 and C6 and +/- C7 nerve roots associated with weakness of shoulder and arm.

Erdheim-Chester disease

Rare, rapidly fatal, multisystem histiocytosis syndrome that usually affects adults, characterized by bone pain, xanthomas, xanthelasma, exophthalmos, diabetes insipidus, retroperitoneal, and pulmonary disease; tropism for adipose and connective tissues.

Erlenmeyer's flask deformity

Seen in osteopetrosis, where the ends of long bones are bulbous.

Esmarch bandage

Rubber bandage applied around a part from distal to proximal in order to expel blood from it (Johannes Friedrich August von Esmarch, German surgeon, 1823-1908).

Esmarch maneuver

In anesthesia, jaw thrust to open an obstructed airway.

Eustachian Tube

A canal leading from the upper part of the pharynx to the middle ear; after Bartolomeo Eustachi, Italian anatomist (died 1574).

eustachian valve

In the fetus, a membranous fold at the opening of the IVC that directs blood flow from the IVC to the foramen ovale; after closure of the foramen ovale, no specific function; prominent eustachian valve more commonly found in patients with presumed paradoxical embolism; after Bartolomeo Eustachi, Italian anatomist (died 1574).

Evans's syndrome

Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia. Described by Evans in 1951.

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

Same tumor as primitive neuroectodermal tumor or small round cell tumor of bone, 85% of cases there is a t(11;22)(q24:q12) translocation; second most common cancer of bone in children and adolescents. Onion skinning, a radiographic finding.

See Also

Sources