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Flashcards in gold usmle: Diseases Deck (146):
1

Addison’s Disease

Primary adrenocortical deficiency

2

Addisonian Anemia

Pernicious anemia (antibodies to intrinsic factor or parietal cells → ↓IF → ↓Vit B12 → megaloblastic anemia)

3

Albright’s Syndrome

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

4

Alport’s Syndrome

Hereditary nephritis with nerve deafness

5

Alzheimer’s

Progressive dementia

6

Argyll-Robertson Pupil

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

7

Arnold-Chiari Malformation

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

8

Barrett’s

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

9

Bartter’s Syndrome

Bartter’s Syndrome

10

Becker’s Muscular Dystrophy

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

11

Bell’s Palsy

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

12

Berger’s Disease

IgA nephropathy causing hematuria in kids, usually following infection

13

Bernard-Soulier Disease

Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)

14

Berry Aneurysm

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

15

Bowen’s Disease

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

16

Brill-Zinsser Disease

Recurrences of rickettsia prowazaki up to 50 yrs later

17

Briquet’s Syndrome

Somatization disorder
22. Psychological: multiple physical complaints without physical pathology

18

Broca’s Aphasia

Motor Aphasia (area 44 & 45) intact comprehension

Inferior Posterior Frontal Lobe

19

Brown-Sequard

Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)

20

Bruton’s Disease

X-linked agammaglobinemia (↓ B cells)

21

Budd-Chiari

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

22

Buerger’s Disease

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

23

Burkitt’s Lymphoma

Small noncleaved cell lymphoma EBV
30. 8:14 translocation
31. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
32. Starry sky appearance

24

Caisson Disease

Nitric gas emboli

25

Chagas’ Disease

Trypansoma infection - cardiomegaly with apical atrophy, achlasia

26

Chediak-Higashi Disease

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

27

Conn’s Syndrome

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

28

Cori’s Disease

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

29

Creutzfeldt-Jakob

Prion infection → cerebellar & cerebral degeneration

30

Crigler-Najjar Syndrome

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

31

Crohn’s

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

32

Curling’s Ulcer

Acute gastric ulcer associated with severe burns

33

Cushing’s

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

34

Cushing’s Ulcer

Acute gastric ulcer associated with CNS trauma

35

de Quervain’s Thyroiditis

Self-limiting focal destruction (subacute thyroiditis)

36

DiGeorge’s Syndrome

Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
53. Thymic hypoplasia → T-cell deficiency
54. Hypoparathyroidism ! Tetany

37

Down’s Syndrome

Trisomy 21 or translocation – Simian Crease

38

Dressler’s Syndrome

Post-MI Fibrinous Pericarditis autoimmune

39

Dubin-Johnson Syndrome

Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
58. Striking brown-to-black discoloration of the liver

40

Duchenne Muscular Dystrophy

Deficiency of dystrophin protein → MD X-linked recessive

41

Edwards’ Syndrome

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

42

Ehler’s-Danlos

Defective collagen

43

Eisenmenger’s Complex

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

44

Erb-Duchenne Palsy

Trauma to superior trunk of brachial plexus Waiter’s Tip
C5-C6

45

Ewing Sarcoma

Malignant undifferentiated round cell tumor of bone in boys

46

Eyrthroplasia of Queyrat

Carcinoma in situ on glans penis

47

Fanconi’s Syndrome

Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria,
hyperphosphaturia, aminoaciduria, systemic acidosis)

48

Felty’s Syndrome

Rheumatoid arthritis, neutropenia, splenomegaly

49

Gardner’s Syndrome

AD = adenomatous polyps of colon, osteomas & soft tissue tumors

50

Gaucher’s Disease

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

51

Gilbert’s Syndrome

Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity

52

Glanzmann’s Thrombasthenia

Defective glycoproteins on platelets = deficient platelet aggregation

53

Goodpasture’s

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

54

Grave’s Disease

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

55

Guillain-Barre

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

56

Hamman-Rich Syndrome

Idiopathic pulmonary fibrosis. Can see honey comb lung.

57

Hand-Schuller-Christian

Chronic progressive histiocytosis

58

Hashimoto’s Thyroiditis

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

59

Hashitoxicosis

Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

60

Henoch-Schonlein purpura

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

61

Hirschprung’s Disease

Aganglionic megacolon

62

Horner’s Syndrome

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

63

Huntington’s (Chromosome 4)

AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ↓ GABA

64

Jacksonian Seizures

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

65

Job’s Syndrome

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

66

Kaposi Sarcoma

Malignant vascular tumor (HHV8 in homosexual men)

67

Kartagener’s Syndrome

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

68

Kawasaki Disease

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

69

Klinefelter’s Syndrome

47, XXY: Long arms, Sterile, Hypogonadism

70

Kluver-Bucy

Bilateral lesions of amygdala (hypersexuality; oral behavior)

71

Krukenberg Tumor

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

72

Laennec’s Cirrhosis

Alcoholic cirrhosis

73

Lesch-Nyhan

HGPRT deficiency
98. Gout, retardation, self-mutilation

74

Letterer-Siwe

Acute disseminated Langerhans’ cell histiocytosis

75

Libman-Sacks

Endocarditis with small vegetations on valve leaflets
101. Associated with SLE

76

Lou Gehrig’s

Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons

77

Mallory-Weis Syndrome

Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)

78

Marfan’s

Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses

79

McArdle’s Disease

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

80

Meckel’s Diverticulum

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

81

Meig’s Syndrome

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

82

Menetrier’s Disease

Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

83

Monckeberg’s Arteriosclerosis

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

84

Munchausen Syndrome

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

85

Nelson’s Syndrome

1° Adrenal Cushings → surgical removal of adrenals → loss of negative feedback to pituitary →Pituitary Adenoma

86

Niemann-Pick

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

87

Osler-Weber-Rendu Syndrome

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

88

Paget’s Disease

Abnormal bone architecture (thickened, numerous fractures → pain)

89

Pancoast Tumor

Bronchogenic tumor with superior sulcus involvement → Horner’s Syndrome

90

Parkinson’s

Dopamine depletion in nigrostriatal tracts

91

Peutz-Jegher’s Syndrome (AD)

Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine

92

Peyronie’s Disease

Subcutaneous fibrosis of dorsum of penis

93

Pick’s Disease – 2 Different
Diseases -

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

94

Plummer’s Syndrome

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

95

Plummer-Vinson

Esophageal webs & iron-deficiency anemia, spoon-shaped nails, ↑ SCCA of esophagus

96

Pompe’s Disease

Type II Glycogenosis – Glycogen storage disease → cardiomegaly (α 1,4 Glucosidase deficiency: ↑ Glycogen)

97

Pott’s Disease

Tuberculous osteomyelitis of the vertebrae

98

Potter’s Complex

Renal agenesis → oligohydramnios → hypoplastic lungs, defects in extremities

99

Raynaud’s

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

100

Reiter’s Syndrome

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

101

Reye’s Syndrome

Microvesicular fatty liver change & encephalopathy
133. 2° to aspirin ingestion in children following viral illness, especially VZV

102

Riedel’s Thyroiditis

Idiopathic fibrous replacement of thyroid

103

Rotor Syndrome

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

104

Sezary Syndrome

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

105

Shaver’s Disease

Aluminum inhalation → lung fibrosis

106

Sheehan’s Syndrome

Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery

107

Shy-Drager

Parkinsonism with autonomic dysfunction & orthostatic hypotension

108

Simmond’s Disease

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

109

Sipple’s Syndrome

MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism

110

Sjogren’s Syndrome

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

111

Spitz Nevus

Juvenile melanoma (always benign)

112

Stein-Leventhal

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

113

Stevens-Johnson Syndrome

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

114

Still’s Disease

Juvenile rheumatoid arthritis (absence of rheumatoid factor)

115

Takayasu’s arteritis

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

116

Tay-Sachs (AR)

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

117

Tetralogy of Fallot

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

118

Tourette’s Syndrome

Involuntary actions, both motor and vocal Txt w/ Pimozide

119

Turcot’s Syndrome

Colon adenomatous polyps plus CNS tumors

120

Turner’s Syndrome

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

121

Vincent’s Infection

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

122

Von Gierke’s Disease

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

123

Von Hippel-Lindau

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

124

Von Recklinghausen’s

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

125

Von Recklinghausen’s Disease of Bone

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

126

Von Willebrand’s Disease (AD)

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

127

Waldenstrom’s macroglobinemia

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

128

Wallenberg’s Syndrome

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

129

Waterhouse-Friderichsen

Adrenal insufficiency 2° to DIC
169. DIC 2° to meningiococcemia

130

Weber’s Syndrome

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

131

Wegener’s Granulomatosis

Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.

132

Weil’s Disease

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

133

Wermer’s Syndrome

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

134

Wernicke’s Aphasia

Sensory Aphasia impaired comprehension

135

Wernicke-Korsakoff Syndrome

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

136

Whipple’s Disease

Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis

137

Wilson’s Disease

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

138

Wiskott-Aldrich Syndrome

Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
183. ↓ IgM w/ ↑ IgA

139

Wolff-Chaikoff Effect

High iodine level (−)’s thyroid hormone synthesis

140

Zenker’s Diverticulum

Esophageal; cricopharyngeal muscles above UES

141

Zollinger-Ellison

Gastrin-secreting tumor of pancreas (or intestine) → ↑ acid → recurrent ulcers

142

Roger’s Disease

Interventricular septal defect

143

Barlow’s Syndrome

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

144

Bracht-Wachter Lesions

Minute abscesses found in subacute bacterial endocarditis

145

Lutembacher’s Syndrome

Combination of septum secundum atrial septal defect w/ mitral stenosis

146

Schmidt’s Syndrome

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