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1
Q

Von Hipple Lindau

A

hemangioblastomas (retina and cerebellum)

cysts/neoplasms (kidney, liver, pancreas)

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2
Q

young patient with angiomatous lesion in cerebellum and cystic mass in the right kidney

A

Von Hipple Lindau

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3
Q

Von Recklinghausen’s disesae

A 
AKA NF1
neurofibromas
optic nerve glioma
lisch nodules on iris
cafe au lait spots
pheochromocytoma
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4
Q

patient with cafe au lait spots and optic nerve glioma

A

NF1/Von Recklinghausen

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5
Q

patient with bilateral acoustic schwannoma and meningiomas

A

NF2

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6
Q

NF2

A

bilateral acoustic shwannoma and multiple meningiomas

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7
Q

Sturge Weber

A

facial angiomas

leptomeningioma

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8
Q

tuberous sclerosis

A 
cysts (liver, kidney, pancreas)
CNS hamartomas (cortical or subependymal)
angiofibromas on skin
renal angiomyolipomas
cardiac rhabdomyomas
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9
Q

kid with seizures, angiofibromas and kidney cysts

A

tuberous sclerosis

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10
Q

patient with recurrent epistaxis and GI bleeding

A

osler weber rendu - telectiectasias of the mucosa

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11
Q

patient with difficulty walking and skin telengiectasias

A

ataxia telengiectasia

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12
Q

young man with cataracts can’t release the doorknob

A

myotonic dystrophy (AD CTG repeat in myotonia protein kinase)

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13
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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14
Q

presentation of IgA deficiency

A

anaphylaxis following blood transfusion

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15
Q

defect underlying Marfans

A

fibrillin defect

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16
Q

back pain, fever, night sweats

A

pott disease (vertebral TB)

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17
Q

bilateral hilar adenopathy, uveitis

A

sarcoid

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18
Q

black escar on diabetic patient’s face

A

mucor/rhizopus

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19
Q

bone pain, bone enlargement, arthritis

A

paget’s disease of bone (caused by increased osetoblastic and osteoclastic activity)

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20
Q

unilateral cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty

A

mc cune albright (mosaic G protein signalling mutation)

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21
Q

mccune albright presentation

A

unilateral cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty

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22
Q

pathology underlying mccune albright

A

mosaic G protein signalling mutation

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23
Q

achiles tendon xanthoma

A

familial hypercholesterolemia (decreased LDL receptor signaling)

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24
Q

abdominal pain, ascites, hepatomegaly in young person

A

budd-chiari (posthepatic venous thrombosis)

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25
Q

pathology underlying budd-chiari

A

posthepatic venous thrombosis

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26
Q

pathology underlying familial hypercholesterolemia

A

decreased LDL receptor signalling

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27
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjuctivae and tongue

A

kawasaki

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28
Q

treatment for kawasaki

A

IVIG and aspirin

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29
Q

chest pain, friction rub, persistent fever following MI

A

Dressler syndrome (autoimmune-mediated fibrinous pericarditis 2-12 weeks post-MI)

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30
Q

child with fever later develops red rash on face that spreads to body

A

erythema infectiosum/fifth disease - parvovirus B19

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31
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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32
Q

albinism, peripheral neuropathy, immuno deficiency

A

chediek higashi (dysfunction of phagosome-lysosome function)

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33
Q

excema, recurrent infections, thrombocytopenia

A

wiskott aldrich (x-linked B and t cell disorder)

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34
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphyrlase deficiency)

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35
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema caused by hypothyroidism

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36
Q

dermatitis, dementia, diarrhea

A

pellagra (B3/niacin deficiency)

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37
Q

dilated cardiomyopathy, edema, alcoholism

A

wet beriberi (B1/thiamine deficiency)

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38
Q

dry eyes, dry mouth, arthritis

A

sjogren (autoimmune destruction of exocrine glands)

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39
Q

dysphagia, glossitis, stomatitis, iron deficiency anemia

A

plummer vinsen (may progress to esophageal squamous cell carcinoma)

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40
Q

elastic skin, joint hpermobility, increased bleeding tendency

A

ehlers-danlos (type 5 or type 3 collagen defect)

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41
Q

enlarged, hard left supraclavicular node

A

virchow’s node (abdominal metastasis)

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42
Q

swollen face and upper extremities

A

superior vena cava syndrome (mediastinal mass from lung cancer)

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43
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease (increased endolymph volume)

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44
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, abnormal T cells

A

mycosis fungoides (cutaneous T cell lymphoma)

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45
Q

fever, chills, headache, mylagia following antibiotic treatment for syphilis

A

jarish-herxheimer reaction (rapid lysis of spirochetes resulting in endotoxin release)

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46
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genetalia

A

Peut-Jeger syndrome (inherited benign polyposis can cause bowel obstruction, increased cancer risk)

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47
Q

hepatosplenomegaly, pancytopenia, osteoporosis, bone crises

A

Gaucher disease (glucocerebrosidase deficiency - lysosomal storage disease)

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48
Q

young patient with nephritis, sensorineural hearing loss, and cataracts

A

alport syndrome (collagen 4 mutation)

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49
Q

hypoxemia, polycythemia, hypercapnia

A

“blue bloater” COPD (chronic bronichitis, hyperplasia of mucosal cells)

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50
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer” COPD (emphysemia, centriacinar or panacinar)

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51
Q

polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophostatemia

A

fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

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52
Q

pupil accommodates but doesn’t react

A

argyll robertson pupil (neurosyphillis)

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53
Q

infant with cherry red macula, hepatosplenomegaly, and neurodegeneration

A

neimann-pick disease (sphingomyelinase deficiency)

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54
Q

infant with cleft lip, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

patau syndrome (trisomy 13)

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55
Q

infant with hypoglycemia, hepatomegaly

A

cori disease (debranching enzyme deficiency) or von gierke (glucose 6 phosphate deficiency - more severe)

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56
Q

infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defet

A

edwards syndrome (trisomy 18)

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57
Q

jaundaice, palpable distended NON-tender gallbladder

A

distal obstruction of biliary tree

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58
Q

male child, recurrent infections, no mature B cells

A

bruton’s X-linked agammaglobulinemia

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59
Q

mucosal bleeding and prolonged bleeding time

A

glanzmann’s thrombastenia (lack of Gp2b/3a causing defect in platelet aggregation)

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60
Q

multiple colon polyps, osteomas, impacted teeth

A

gardner syndrome (subtype of familial adenosis polyposis)

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61
Q

mypopathy (or infantile hypertrophic cardiomyopathy), exercise intolerance

A

pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

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62
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumonia, mono, CLL)

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63
Q

painless jaundice

A

cancer of the pancreatic head obstructing the bile duct

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64
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1

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65
Q

periorbital and peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

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66
Q

recurrent cold abcesses, eczema, high IgE

A

hyper IgE (Job syndrome - neutrophil chemotaxis abnormality)

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67
Q

bilateral renal cell carcinoma, hemangioplastomas, angiomatosis, pheochromocytoma

A

von hippel lindau (dominant tumor suppressor gene mutation)

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68
Q

retinal hemorrhages with pale centers

A

roth spots (bacterial endocarditis)

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69
Q

severe jaundice in neonate

A

crigler-najjar (congenital unconjugated hyperbilirubinemia)

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70
Q

short stature, cafe au lait spots, thumb defects, increased incidence of tumors, aplastic anemia

A

fanconi anemia (genetic loss of DNA crosslink repair, often progressing to AML)

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71
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addison disease, increased ACTH)

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72
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles/rubeola virus)

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73
Q

smooth, moist, painless, wart-like lesions on genitals

A

condylomata lata (secondary syphilis)

74
Q

splinter hemorrhages in fingernails

A

bacteria endocarditis

75
Q

strawberry tongue

A

scarlet fever (strep pyogenes) or Kawasaki

76
Q

swollen, hard, painful finger joits

A

osteoarthritis (osteophyes on PIP=Bouchard, DIP=heberden nodes)

77
Q

telengiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

A

osler-weber-rendu syndrome

78
Q

thyroid and parathyroid tumors, pheochromocotyoma

A

MEN2A (RET mutation)

79
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B (RET mutation)

80
Q

urethritis, conjuctivitis, arthritis

A

reactive arthritis associated with HLA-B27

81
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple diesease (caused by tropheryma whipplei)

82
Q

anticentromere antibodies

A

CREST scleroderma

83
Q

anti-desmoglein antibodies

A

pemphigus vulgaris

84
Q

anti-glomerular basement membrane antibodies

A

goodpasture syndrome

85
Q

antihistone antibodies

A

drug-induced SLE (due to hydralazine, isoniazid, phenytoin, procainamide)

86
Q

antimitochondrial antibodies

A

primary bilary cirrhosis (female, cholestasis, portal hyerptension)

87
Q

anti-IgG antibodies

A

rhematoid arthritis

88
Q

MPO antineutrophil cytoplasmic antibodies

A

aka p-ANCA:

seen in BOTH microscopic polyangiitis (MPA) AND eosinophilic granulomatosis with polyangiitis (EGPA)

89
Q

PR3 antineutrophil cytoplasmic antibodies

A

aka c-ANCA:

seen in granulomatosis with polyangiitis (GPA)

90
Q

antinuclear antibodies

A

aka ANA, anti-Smith, anti-dsDNA

SLE (type 3 hypersensitivity)

91
Q

antiplatelet antibodies

A

ITP

92
Q

anti-topoisomerase antibodies

A

diffuse systemic scleroderma

93
Q

anti-transglutaminase/anti-gliadin/anti-endomysial antibodies

A

celiac

94
Q

apple core lesion on barium enema x-ray

A

left sided colorectal cancer

95
Q

atypical reactive lymphocytes

A

EBV

96
Q

azurophilic peroxidase granular inclusions in granulocytes and myeloblasts

A

Auer rods (seen in AML)

97
Q

basophilic nuclear remnants in peripheral RBCs

A

howell jolly bodies (due to splenectomy)

98
Q

basophilic stippling of RBCs

A

lead posioning

99
Q

boot-shaped heart on x-ray

A

right heart failure (seen in tetralogy of fallot)

100
Q

brown tumor of bone

A

hyperparathyroidism causing osteitis fibrosa cystica (deposited hemosiderin from hemorrhage)

101
Q

chocolate cyst of ovaries

A

endometriosis

102
Q

circular grouping of dark tumor cells surrounding pale neurofibrils in CNS

A

Homer-Wright rosettes (seen in neuroblastoma and medulloblastoma)

103
Q

pseudomonas in lungs

A

cystic fibrosis (autosomal recessive mutation in CFTR gene)

104
Q

decreased alpha fetal protein in amniotic fluid

A

down syndrome

105
Q

desquamated epithelium casts in sputum

A

curshmann spirals - bronchial asthma

106
Q

disarrayed epithelial cells arranged around collections of eosinophilic fluid in ovary

A

call exner bodies (granulosa cell tumor of ovary)

107
Q

enlarged cells with intranuclear inclusion bodies

A

owl eye - CMV

108
Q

enlarged thyroid cell with ground-glass nuclei and central clearing

A

orphan annie eye nuclei - papillary carcinoma of the thyroid

109
Q

eosinophilic cytoplasmic includion in liver cells

A

mallory body (alcoholic liver disease)

110
Q

eosinophilic cytoplasmic inclusions in nerve cell

A

Lewy body

111
Q

eosinophilic globule in liver

A

councilman body (viral hepatitis or yellow fever)

112
Q

eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons

A

Negri bodies of rabies

113
Q

giant B cells with bilobed nuclei with prominent inclusions

A

Reed-Sternberg cells of Hodgkin lymphoma

114
Q

glomerulus-like structure surrounding vessel in germ cells

A

schiller-duval bodies (seen in yolk sac tumors)

115
Q

“hair on end” appearance on x-ray

A

beta thalassemia, sickle cell (bone marrow expansion)

116
Q

elevated hCG

A

choriocarcinoma
hydatiform mole
multiple pregnancy

117
Q

northern blots identify what

A

mRNA

118
Q

western blots identify what

A

protein

119
Q

southern blots identify what

A

DNA

120
Q

role of TNFalpha

A

acute phase cytokine produced by macrophages, especially in sepsis (along with IL-1 and IL-6)

121
Q

role of TGFbeta

A

anti inflammatory cytokine released by macrophages that inhibits the release of IL-1 and TNFalpha and fights sepsis

122
Q

patient with painful subcutaneous nodules on legs, polyarthritis, fatigue, uveitis and pulmonary infiltrates

A

sarcoid

123
Q

role of IFN gamma

A

activates macrophages and promotes granuloma formation

124
Q

heterophile antibodies

A

infectious mononucleosis (EBV)

125
Q

granulomatous heart nodules

A

aschoff bodies - rheumatic fever

126
Q

honeycomb lunch on imaging

A

interstitial pulmonary fibrosis

127
Q

hypercoagulability leading to migrating DVTs and vasculitis

A

trousseau syndrome - due to adenocarcinoma of pancreas or lung

128
Q

hypertension, hypokalemia, metabolic alkalosis

A

conn syndrome - primary hyperaldosteronism

129
Q

increased alpha fetal protein in amniotic fluid

A

neural tube defect

130
Q

increased uric acid levels

A

gout
lesch nyhan
tumor lysis syndrome
loop and thiazide diuretics

131
Q

intranuclear eosinophilic droplet-like bodies

A

cowdry bodies (HSV or VZV)

132
Q

large granules in phagocytes plus immunodeficiency

A

chediak higashi

133
Q

lead pipe appearance of colon on abdominal imaging

A

ulcerative colitis (loss of haustra)

134
Q

linear IgG deposition on glomerular and alveolar basement membranes

A

goodpasture

135
Q

lumpy bumpy glomeruli on IF

A

post strep glomerulonephritis (deposition of IgG, IgM and C3)

136
Q

lytic “punched out” bone lesions on xray

A

multiple myeloma

137
Q

M spike and abdominal pain and swelling

A

waldenstrom macroglobulinemia - monoclonal IgM proliferation and lymphoma (causing hepatosplenomegaly)

138
Q

hemoptysis and hematuria

A

goodpasture (anti BM) or GPA (c-ANCA)

139
Q

nutmeg liver

A

chronic passive congestion of liver (either due to right heart failure OR budd chiari)

140
Q

periosteum raised from bone, causing triangle area on xray

A

codman triangle (ewing sarcoma, osteosarcoma, pyogenic osteomyelitis)

141
Q

small blue cells in tumor of bone

A

ewing sarcoma

142
Q

psammoma bodies

A
  • meningiomas
  • papillary thyroid carcinoma
  • mesothelioma
  • papillary serous carcinoma of the endometrium/ovary
143
Q

RBC casts in urine

A

glomeruloneprhitis

144
Q

muddy brown casts in urine

A

acute tubular necrosis

145
Q

rectangular, crystal-like, cytoplasmic inclusions in Leydig cells

A

Reinke crystals (Leydig cell tumor)

146
Q

renal epithelial casts in urine

A

intrinsic renal failure (ischemia or toxic injury)

147
Q

sheets of medium-sized lymphoid cells with scattered pale tingible body-laden macrophages

A

“starry sky” burkitt lymphoma (c-myc 8:14 translocation)

148
Q

silver-staining spherical aggregation of tau proteins in neurons

A

pick bodies (seen in pick dementia: progressive dementia, changes in personality)

149
Q

“soap bubble” in femur or tibia

A

giant cell tumor of bone (generally benign)

150
Q

spike and dome on basement membrane

A

membranous nephropathy

151
Q

stacks of RBCs

A
  • high ESR

- multiple myeloma

152
Q

steeple sign on chest xray

A

croup

153
Q

stippled vaginal epithelial cells

A

clue cells (Seen in gardnerella vaginalis)

154
Q

thyroid-like appearance of kidney

A

chronic pyelonephritis (recurrent infections)

155
Q

tram track glumerular basement membrane

A

membranoproliferative glomerulonephritis

156
Q

waxy casts in urine

A

chronic end stage renal disease

157
Q

“smudged” white blood cells

A

CLL (almost always B cell)

158
Q

wire loop glomerular capillary appearance

A

diffuse proliferative glomerulonephritis (especially lupus)

159
Q

difficulty walking, blanching skin redness, recurrent sinopulmonary infections

A

ataxia-telengiectasia

160
Q

severe bacterial and fungal infections with granuloma formation

A

chronic granulomatous disease

161
Q

congeintal heart disease, dyspmorphic facies, hypocalcemia

A

diGeorge

162
Q

severe bacterial/viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis

A

severe combind immunodeficiency

163
Q

conjunctivitis, swelling of palms and soles, cracked, bright red lips

A

kawasaki

164
Q

cell types that only have GLUT-4

A

muscle cells and adipocytes (insulin dependent)

165
Q

hemolysis, ataxia, loss of deep tendon reflexes

A

vitamin E deficiency

166
Q

baby with lethargy, protruding tongue, enlarged fontanelle, constipation, umbilical hernia and poor feeding

A

congenital hypothyroidism

167
Q

mom had arthralgias, stillborn with pleural effusion, pulmonary hypoplasia and ascites

A

parvovirus B19 (naked ssDNA virus)

168
Q

patient with abdominal pain and black stool, fever, weight loss, muscle pains, biopsy reveals transmural inflammation of mid-sized arterioles with eosin-staining necrosis

A

polyarteritis nodosa - associated with hep B/C

169
Q

lens subluxation

A

marfans AND homocysteinuria

170
Q

conjunctivitis, cough, buccal spots

A

measles/rubeola

171
Q

mech of actin of nitrates

A

venodilation - reduced preload and reduced myocardial oxygen demand

172
Q

family history of colorectal cancer, endometrial cancer and ovarian cancer

A

lynch syndrome - MSH mutation

173
Q

family history of colorectal cancer, osteomas, brain tumors

A

familial adenomatous polyposis - APC mutation

174
Q

family history of hemangioblastomas, clear cell renal carcinoma and pheochromocytomas

A

von hippel lindau

175
Q

family history of sarcomas, breast cancer, brain tumors, leukemia and adrenocortical carcinoma

A

li-fraumeni syndrome

176
Q

patient with benign hypercalcemia, low calcium in urine, high PTH and normal vitamin D

A

familial hypocalciuric hypercalcemia - caused by defective Gq protein-coupled calcium-sensing receptors

177
Q

transamination reactions require what cofactor

A

B6 (Pyridoxine)

178
Q

carboxylation reactions require what cofactor

A

B7 (Biotin)

179
Q

transketolase requires what cofactor

A

B1 (thiamine)

180
Q

which amino acids do you supplement in people with pyruvate dehydrogenase deficiency

A

lysine and leucine (ketogenic)

181
Q

patient with conjunctivitis and pharyngitis

A

adenovirus

182
Q

baby with decreased pyruvate dehydrogenase activity - what should they be given

A

lysine or leucine

USMLE Step 1 (1 decks)

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