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gold usmle: Diseases Flashcards

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1
Q

Addison’s Disease

A

Primary adrenocortical deficiency

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2
Q

Addisonian Anemia

A

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

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3
Q

Albright’s Syndrome

A

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

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4
Q

Alport’s Syndrome

A

Hereditary nephritis with nerve deafness

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5
Q

Alzheimer’s

A

Progressive dementia

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6
Q

Argyll-Robertson Pupil

A

Loss of light reflex constriction (contralateral or bilateral)

  1. “Prostitute’s Eye” – accommodates but does not react
  2. Pathognomonic for 3°Syphilis
  3. Lesion pretectal region of superior colliculus
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7
Q

Arnold-Chiari Malformation

A

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

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8
Q

Barrett’s

A

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

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9
Q

Bartter’s Syndrome

A

Bartter’s Syndrome

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10
Q

Becker’s Muscular Dystrophy

A

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

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11
Q

Bell’s Palsy

A

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

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12
Q

Berger’s Disease

A

IgA nephropathy causing hematuria in kids, usually following infection

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13
Q

Bernard-Soulier Disease

A

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

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14
Q

Berry Aneurysm

A

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

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15
Q

Bowen’s Disease

A

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

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16
Q

Brill-Zinsser Disease

A

Recurrences of rickettsia prowazaki up to 50 yrs later

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17
Q

Briquet’s Syndrome

A

Somatization disorder

22. Psychological: multiple physical complaints without physical pathology

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18
Q

Broca’s Aphasia

A

Motor Aphasia (area 44 & 45) intact comprehension

Inferior Posterior Frontal Lobe

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19
Q

Brown-Sequard

A

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

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20
Q

Bruton’s Disease

A

X-linked agammaglobinemia (↓ B cells)

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21
Q

Budd-Chiari

A

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

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22
Q

Buerger’s Disease

A

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

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23
Q

Burkitt’s Lymphoma

A

Small noncleaved cell lymphoma EBV

  1. 8:14 translocation
  2. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
  3. Starry sky appearance
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24
Q

Caisson Disease

A

Nitric gas emboli

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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

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