Usmle - Medical Eponyms

Front 1

Addison’s Disease

Back 1

Primary adrenocortical deficiency

Front 2

Addisonian Anemia

Back 2

Pernicious anemia (antibodies to intrinsic factor or parietal cells ® ¯IF ® ¯Vit B12 ® megaloblastic anemia)

Front 3

Albright’s Syndrome

Back 3

Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls

Front 4

Alport’s Syndrome

Back 4

Hereditary nephritis with nerve deafness

Front 5

Alzheimer’s

Back 5

Progressive dementia

Front 6

Argyll-Robertson Pupil

Back 6

Loss of light reflex constriction (contralateral or bilateral)
“Prostitute’s Eye” – accommodates but does not react
Pathognomonic for 3°Syphilis
Lesion pretectal region of superior colliculus

Front 7

Arnold-Chiari Malformation

Back 7

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

Front 8

Barrett’s

Back 8

Columnar metaplasia of lower esophagus (­ risk of adenocarcinoma)- constant gastroesophageal reflux

Front 9

Bartter’s Syndrome

Back 9

Hyperreninemia

Front 10

Becker’s Muscular Dystrophy

Back 10

Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)

Front 11

Bell’s Palsy

Back 11

CNVII palsy (LMN palsy) (entire face; recall that UMN lesion only affects lower face)

Front 12

Berger’s Disease

Back 12

IgA nephropathy causing hematuria in kids, usually following infection

Front 13

Bernard-Soulier Disease

Back 13

Defect in platelet adhesion
Gp1b deficiency (receptor for vWF)
Prolonged bleeding time, thrombocytopenia, giant platelets, and decreased plaetelet survival

Front 14

Berry Aneurysm

Back 14

Circle of Willis (subarachnoid bleed) Anterior Communicating artery
Often associated with ADPKD

Front 15

Bowen’s Disease

Back 15

Carcinoma in situ on shaft of penis (­ risk of visceral ca) [compare w/ Queyrat]

Front 16

Brill-Zinsser Disease

Back 16

Recurrences of rickettsia prowazaki up to 50 yrs later

Front 17

Briquet’s Syndrome

Back 17

Somatization disorder
Psychological: multiple physical complaints without physical pathology

Front 18

Broca’s Aphasia

Back 18

Motor Aphasia (area 44 & 45) intact comprehension

Front 19

Brown-Sequard

Back 19

Hemisection of cord
-The corticospinal lesion produces spastic paralysis on the same side of the body (the loss of moderation by the UMN).
-The lesion to fasciculus gracilis or fasciculus cuneatus results in ipsilateral loss of vibration and proprioception (position sense).
-The loss of the spinothalamic tract leads to pain and temperature sensation being lost from the contralateral side beginning one or two segments below the lesion.

Front 20

Bruton’s Disease

Back 20

X-linked agammaglobinemia (¯ B cells)

Front 21

Budd-Chiari

Back 21

Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure

Front 22

Buerger’s Disease

Back 22

Acute inflammation of medium and small arteries of extremities ® painful ischemia ® gangrene
Seen almost exclusively in young and middle-aged men who smoke.

Front 23

Burkitt’s Lymphoma

Back 23

Small noncleaved cell lymphoma EBV
8:14 translocation
Seen commonly in jaws, abdomen, retroperitoneal soft tissues
Starry sky appearance

Front 24

Caisson Disease

Back 24

Nitric gas emboli

Front 25

Chagas’ Disease

Back 25

Trypansoma infection - cardiomegaly with apical atrophy, achlasia

Front 26

Chediak-Higashi Disease

Back 26

(AR) Phagocyte Deficiency = defect in microtubule polymerization
Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph

Front 27

Conn’s Syndrome

Back 27

Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ¯ renin

Front 28

Cori’s Disease

Back 28

Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. ­ Glycogen)

Front 29

Creutzfeldt-Jakob

Back 29

Prion infection ® cerebellar & cerebral degeneration

Front 30

Crigler-Najjar Syndrome

Back 30

Congenital hyperbilirubinemia (unconjugated)
Glucuronyl transferase deficiency. Can progress to Kernicterus
Less severe form will respond to Phenobarbital therapy

Front 31

Crohn’s

Back 31

IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ­ colon cancer risk)
Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures

Front 32

Curling’s Ulcer

Back 32

Acute gastric ulcer associated with severe burns

Front 33

Cushing’s

Back 33

Disease: Hypercorticism 2° to ­ ACTH from pituitary (basophilic adenoma)
Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
Moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia

Front 34

Cushing’s Ulcer

Back 34

Acute gastric ulcer associated with CNS trauma

Front 35

de Quervain’s Thyroiditis

Back 35

Self-limiting focal destruction (subacute thyroiditis)

Front 36

DiGeorge’s Syndrome

Back 36

Failure of 3rd & 4th pharyngeal pouches formation: Thymus, Parathyroid
Thymic hypoplasia and T-cell deficiency
Hypoparathyroidism produces tetany

Front 37

Down’s Syndrome

Back 37

Trisomy 21 or translocation – Simian Crease

Front 38

Dressler’s Syndrome

Back 38

Post-MI Fibrinous Pericarditis autoimmune

Front 39

Dubin-Johnson Syndrome

Back 39

Congenital hyperbilirubinemia (conjugated)
Defective transport of conjugated bilirubin into bile
Striking brown-to-black discoloration of the liver

Front 40

Duchenne Muscular Dystrophy

Back 40

Deficiency of dystrophin protein ® MD X-linked recessive

Front 41

Edwards’ Syndrome

Back 41

Trisomy 18
Rocker-bottom feet, low ears, small lower jaw, heart disease

Front 42

Ehler’s-Danlos

Back 42

Autosomal dominant
Defective Type III collagen

Front 43

Eisenmenger’s Complex

Back 43

Late cyanotic shunt (R®L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA

Front 44

Erb-Duchenne Palsy

Back 44

Trauma to superior trunk of brachial plexus
Waiter’s Tip

Front 45

Ewing Sarcoma

Back 45

Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22

Front 46

Eyrthroplasia of Queyrat

Back 46

Carcinoma in situ on glans penis

Front 47

Fanconi’s Syndrome

Back 47

Impaired proximal tubular reabsorption 2° to lead poisoning or expired tetracycline, tenofovir (in cases of pre-existing renal impairment)
Produces glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis, hypokalemia

Front 48

Felty’s Syndrome

Back 48

Rheumatoid arthritis, neutropenia, splenomegaly

Front 49

Gardner’s Syndrome

Back 49

Autosomal dominant
Familial form of colonic polyposis
Also, presence of extracolonic tumors, including osteomas of skull, thyroid cancer, epidermoid cysts, fibromas

Front 50

Gaucher’s Disease

Back 50

Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
Hepatosplenomegaly, femoral head & long bone erosion, anemia

Front 51

Gilbert’s Syndrome

Back 51

Benign congenital hyperbilirubinemia (unconjugated) = decreased glucuronyl transferase activity

Front 52

Glanzmann’s Thrombasthenia

Back 52

Defective glycoproteins on platelets = deficient platelet aggregation

Front 53

Goodpasture’s

Back 53

Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s

Front 54

Grave’s Disease

Back 54

Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4

Front 55

Guillain-Barre

Back 55

Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)

Front 56

Hamman-Rich Syndrome

Back 56

Idiopathic pulmonary fibrosis. Can see honey comb lung.

Front 57

Hand-Schuller-Christian

Back 57

Chronic progressive histiocytosis

Front 58

Hashimoto’s Thyroiditis

Back 58

Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH

Front 59

Hashitoxicosis

Back 59

Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

Front 60

Henoch-Schonlein purpura

Back 60

Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
Associated with upper respiratory infections

Front 61

Hirschprung’s Disease

Back 61

Aganglionic megacolon

Front 62

Horner’s Syndrome

Back 62

Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)

Front 63

Huntington’s (Chromosome 4)

Back 63

Autosomal dominant
Chromosome 4
Progressive degeneration of caudate nucleus, putamen (striatum), and frontal cortex
Increased GABA

Front 64

Jacksonian Seizures

Back 64

Epileptic events originating in the primary motor cortex (area 4)

Front 65

Job’s Syndrome

Back 65

Immune deficiency: neutrophils fail to respond to chemotactic stimuli
Defective neutrophilic chemotactic response = repeated infections
Commonly seen in light-skinned, red-haired girls
­’d IgE levels

Front 66

Kaposi Sarcoma

Back 66

Malignant vascular tumor (HHV8 in homosexual men)

Front 67

Kartagener’s Syndrome

Back 67

Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility

Front 68

Kawasaki Disease

Back 68

Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)

Front 69

Klinefelter’s Syndrome

Back 69

47, XXY: Long arms, Sterile, Hypogonadism

Front 70

Kluver-Bucy

Back 70

Bilateral lesions of amygdala (hypersexuality; oral behavior)

Front 71

Krukenberg Tumor

Back 71

Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries

Front 72

Laennec’s Cirrhosis

Back 72

Alcoholic cirrhosis

Front 73

Lesch-Nyhan

Back 73

HGPRT deficiency
Gout, retardation, self-mutilation

Front 74

Letterer-Siwe

Back 74

Acute disseminated Langerhans’ cell histiocytosis
Typically occurs before age 2
Langerhans proliferation and infiltration of skin, liver, lungs, bone marrow

Front 75

Libman-Sacks

Back 75

Endocarditis with small vegetations on valve leaflets
Associated with SLE

Front 76

Lou Gehrig’s

Back 76

Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons

Front 77

Mallory-Weis Syndrome

Back 77

Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)

Front 78

Marfan’s

Back 78

Connective tissue defect
Mutation in fibrillin gene
Dissecting aortic aneurysm, subluxation of lenses, mitral valve prolapse, tall stature, arachnydactyly, cystic medial degeneration of aorta leading to aortic ring dilatation

Front 79

McArdle’s Disease

Back 79

Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ­ Glycogen)

Front 80

Meckel’s Diverticulum

Back 80

Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk

Front 81

Meig’s Syndrome

Back 81

Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries

Front 82

Menetrier’s Disease

Back 82

Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

Front 83

Monckeberg’s Arteriosclerosis

Back 83

Calcification of the media (usually radial & ulnar aa.)

Front 84

Munchausen Syndrome

Back 84

Factitious disorder (consciously creates symptoms, but doesn’t know why)

Front 85

Nelson’s Syndrome

Back 85

1° Adrenal Cushings
Surgical removal of adrenals
Loss of negative feedback to pituitary
Pituitary Adenoma

Front 86

Niemann-Pick

Back 86

Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
“Foamy histiocytes”

Front 87

Osler-Weber-Rendu Syndrome

Back 87

Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.

Front 88

Paget’s Disease

Back 88

Abnormal bone architecture (thickened, numerous fractures ® pain)

Front 89

Pancoast Tumor

Back 89

Bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome

Front 90

Parkinson’s

Back 90

Dopamine depletion in nigrostriatal tracts

Front 91

Peutz-Jegher’s Syndrome (AD)

Back 91

Autosomal dominant
Sporadic hamartomatous mucosal polyps of small intestine and colon
Melanotic pigmentation of mucosal and skin surfaces
Increased risk of carcinomas (pancreas, breast, lung, uterus, ovary)

Front 92

Peyronie’s Disease

Back 92

Subcutaneous fibrosis of dorsum of penis

Front 93

Pick’s Disease – 2 Different Diseases -

Back 93

1. Progressive dementia similar to Alzheimer’s
2. Constrictive pericarditis – sequel to mediastinal tuberculosis
Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole

Front 94

Plummer’s Syndrome

Back 94

Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)

Front 95

Plummer-Vinson

Back 95

Esophageal webs and iron-deficiency anemia
Spoon-shaped nails
Increased risk of SCC of esophagus

Front 96

Pompe’s Disease

Back 96

Type II Glycogenosis – Glycogen storage disease ® cardiomegaly (a 1,4 Glucosidase deficiency: ­ Glycogen)

Front 97

Pott’s Disease

Back 97

Tuberculous osteomyelitis of the vertebrae

Front 98

Potter’s Complex

Back 98

Renal agenesis
Oligohydramnios
Hypoplastic lungs
Defects in extremities

Front 99

Raynaud’s

Back 99

Disease: recurrent vasospasm in extremities = seen in young, healthy women
Phenomenon: 2° to underlying disease (SLE or scleroderma)

Front 100

Reiter’s Syndrome

Back 100

Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular

Front 101

Reye’s Syndrome

Back 101

Microvesicular fatty liver change & encephalopathy
2° to aspirin ingestion in children following viral illness, especially VZV

Front 102

Riedel’s Thyroiditis

Back 102

Idiopathic fibrous replacement of thyroid

Front 103

Rotor Syndrome

Back 103

Congenital hyperbilirubinemia (conjugated)
Similar to Dubin-Johnson, but no discoloration of the liver

Front 104

Sezary Syndrome

Back 104

Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)

Front 105

Shaver’s Disease

Back 105

Aluminum inhalation ® lung fibrosis

Front 106

Sheehan’s Syndrome

Back 106

Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery

Front 107

Shy-Drager

Back 107

Parkinsonism with autonomic dysfunction & orthostatic hypotension

Front 108

Simmond’s Disease

Back 108

Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s

Front 109

Sipple’s Syndrome

Back 109

MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism

Front 110

Sjogren’s Syndrome

Back 110

Triad: dry eyes, dry mouth, arthritis ­ risk of B-cell lymphoma

Front 111

Spitz Nevus

Back 111

Juvenile melanoma (always benign)

Front 112

Stein-Leventhal

Back 112

Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = ­­LH secretion

Front 113

Stevens-Johnson Syndrome

Back 113

Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa drugs)

Front 114

Still’s Disease

Back 114

Juvenile rheumatoid arthritis (absence of rheumatoid factor)

Front 115

Takayasu’s arteritis

Back 115

Aortic arch syndrome
Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats.
Common in young Asian females

Front 116

Tay-Sachs (AR)

Back 116

Gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside) Cherry Red Spots of the Macula

Front 117

Tetralogy of Fallot

Back 117

1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy

Front 118

Tourette’s Syndrome

Back 118

Involuntary actions, both motor and vocal Txt w/ Pimozide

Front 119

Turcot’s Syndrome

Back 119

Colon adenomatous polyps plus CNS tumors

Front 120

Turner’s Syndrome

Back 120

45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.

Front 121

Vincent’s Infection

Back 121

“Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium

Front 122

Von Gierke’s Disease

Back 122

Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton

Front 123

Von Hippel-Lindau

Back 123

Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
Adenomas of the viscera, especially ­ Renal Cell Carcinoma
Chromosome 3p

Front 124

Von Recklinghausen’s

Back 124

Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)

Front 125

Von Recklinghausen’s Disease of Bone

Back 125

Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement

Front 126

Von Willebrand’s Disease (AD)

Back 126

Defect in platelet adhesion 2° to deficiency in vWF. ­aPPT, ­ Bleed time

Front 127

Waldenstrom’s macroglobinemia

Back 127

Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies

Front 128

Wallenberg’s Syndrome

Back 128

Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp

Front 129

Waterhouse-Friderichsen

Back 129

Adrenal insufficiency 2° to DIC
DIC 2° to meningiococcemia

Front 130

Weber’s Syndrome

Back 130

Paramedian Infarct of Midbrain
Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

Front 131

Wegener’s Granulomatosis

Back 131

c-ANCA
Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Necrotizing vasculitis of small-and medium-sized vessels

Front 132

Weil’s Disease

Back 132

Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis
Dark field microscopy for dx

Front 133

Wermer’s Syndrome

Back 133

MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary

Front 134

Wernicke’s Aphasia

Back 134

Sensory Aphasia impaired comprehension

Front 135

Wernicke-Korsakoff Syndrome

Back 135

Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)

Front 136

Whipple’s Disease

Back 136

Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis

Front 137

Wilson’s Disease

Back 137

Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
Chromosome 13

Front 138

Wiskott-Aldrich Syndrome

Back 138

X-linked recessive
Combined B and T cell immunodeficiency
Immunodeficiency, (thrombocytopenia; eczema
Decreased IgM w/ Increased IgA

Front 139

Wolff-Chaikoff Effect

Back 139

High iodine level (-)’s thyroid hormone synthesis

Front 140

Zenker’s Diverticulum

Back 140

Esophageal; cricopharyngeal muscles above UES
Increased pressure and traction in the lower esophagus results in protrusion of esophageal wall through muscles posterior to esophagus
Manifestations include regurgitation, dysphagia, sense of lump in throat, halitosis, gurgling noises when swallowing

Front 141

Zollinger-Ellison

Back 141

Gastrin-secreting tumor of pancreas (or intestine)
Leads to excess gastric acid production and recurrent ulcers

Front 142

Roger’s Disease

Back 142

Interventricular septal defect

Front 143

Barlow’s Syndrome

Back 143

Floppy vale syndrome – women b/t 20-40 yoa

Front 144

Bracht-Wachter Lesions

Back 144

Minute abscesses found in subacute bacterial endocarditis

Front 145

Lutembacher’s Syndrome

Back 145

Combination of septum secundum atrial septal defect w/ mitral stenosis

Front 146

Schmidt’s Syndrome

Back 146

Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes