step1 Flashcards
1
Q
Von Hipple Lindau
A
hemangioblastomas (retina and cerebellum)
cysts/neoplasms (kidney, liver, pancreas)
2
Q
young patient with angiomatous lesion in cerebellum and cystic mass in the right kidney
A
Von Hipple Lindau
3
Q
Von Recklinghausen’s disesae
A
AKA NF1 neurofibromas optic nerve glioma lisch nodules on iris cafe au lait spots pheochromocytoma
4
Q
patient with cafe au lait spots and optic nerve glioma
A
NF1/Von Recklinghausen
5
Q
patient with bilateral acoustic schwannoma and meningiomas
A
NF2
6
Q
NF2
A
bilateral acoustic shwannoma and multiple meningiomas
7
Q
Sturge Weber
A
facial angiomas
leptomeningioma
8
Q
tuberous sclerosis
A
cysts (liver, kidney, pancreas) CNS hamartomas (cortical or subependymal) angiofibromas on skin renal angiomyolipomas cardiac rhabdomyomas
9
Q
kid with seizures, angiofibromas and kidney cysts
A
tuberous sclerosis
10
Q
patient with recurrent epistaxis and GI bleeding
A
osler weber rendu - telectiectasias of the mucosa
11
Q
patient with difficulty walking and skin telengiectasias
A
ataxia telengiectasia
12
Q
young man with cataracts can’t release the doorknob
A
myotonic dystrophy (AD CTG repeat in myotonia protein kinase)
13
Q
anaphylaxis following blood transfusion
A
IgA deficiency
14
Q
presentation of IgA deficiency
A
anaphylaxis following blood transfusion
15
Q
defect underlying Marfans
A
fibrillin defect
16
Q
back pain, fever, night sweats
A
pott disease (vertebral TB)
17
Q
bilateral hilar adenopathy, uveitis
A
sarcoid
18
Q
black escar on diabetic patient’s face
A
mucor/rhizopus
19
Q
bone pain, bone enlargement, arthritis
A
paget’s disease of bone (caused by increased osetoblastic and osteoclastic activity)
20
Q
unilateral cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty
A
mc cune albright (mosaic G protein signalling mutation)
21
Q
mccune albright presentation
A
unilateral cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty
22
Q
pathology underlying mccune albright
A
mosaic G protein signalling mutation
23
Q
achiles tendon xanthoma
A
familial hypercholesterolemia (decreased LDL receptor signaling)
24
Q
abdominal pain, ascites, hepatomegaly in young person
A
budd-chiari (posthepatic venous thrombosis)
25
pathology underlying budd-chiari
posthepatic venous thrombosis
26
pathology underlying familial hypercholesterolemia
decreased LDL receptor signalling
27
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjuctivae and tongue
kawasaki
28
treatment for kawasaki
IVIG and aspirin
29
chest pain, friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated fibrinous pericarditis 2-12 weeks post-MI)
30
child with fever later develops red rash on face that spreads to body
erythema infectiosum/fifth disease - parvovirus B19
31
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
32
albinism, peripheral neuropathy, immuno deficiency
chediek higashi (dysfunction of phagosome-lysosome function)
33
excema, recurrent infections, thrombocytopenia
wiskott aldrich (x-linked B and t cell disorder)
34
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphyrlase deficiency)
35
cutaneous/dermal edema due to connective tissue deposition
myxedema caused by hypothyroidism
36
dermatitis, dementia, diarrhea
pellagra (B3/niacin deficiency)
37
dilated cardiomyopathy, edema, alcoholism
wet beriberi (B1/thiamine deficiency)
38
dry eyes, dry mouth, arthritis
sjogren (autoimmune destruction of exocrine glands)
39
dysphagia, glossitis, stomatitis, iron deficiency anemia
plummer vinsen (may progress to esophageal squamous cell carcinoma)
40
elastic skin, joint hpermobility, increased bleeding tendency
ehlers-danlos (type 5 or type 3 collagen defect)
41
enlarged, hard left supraclavicular node
virchow's node (abdominal metastasis)
42
swollen face and upper extremities
superior vena cava syndrome (mediastinal mass from lung cancer)
43
episodic vertigo, tinnitus, hearing loss
meniere disease (increased endolymph volume)
44
erythroderma, lymphadenopathy, hepatosplenomegaly, abnormal T cells
mycosis fungoides (cutaneous T cell lymphoma)
45
fever, chills, headache, mylagia following antibiotic treatment for syphilis
jarish-herxheimer reaction (rapid lysis of spirochetes resulting in endotoxin release)
46
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genetalia
Peut-Jeger syndrome (inherited benign polyposis can cause bowel obstruction, increased cancer risk)
47
hepatosplenomegaly, pancytopenia, osteoporosis, bone crises
Gaucher disease (glucocerebrosidase deficiency - lysosomal storage disease)
48
young patient with nephritis, sensorineural hearing loss, and cataracts
alport syndrome (collagen 4 mutation)
49
hypoxemia, polycythemia, hypercapnia
"blue bloater" COPD (chronic bronichitis, hyperplasia of mucosal cells)
50
pink complexion, dyspnea, hyperventilation
"pink puffer" COPD (emphysemia, centriacinar or panacinar)
51
polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophostatemia
fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
52
pupil accommodates but doesn't react
argyll robertson pupil (neurosyphillis)
53
infant with cherry red macula, hepatosplenomegaly, and neurodegeneration
neimann-pick disease (sphingomyelinase deficiency)
54
infant with cleft lip, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
55
infant with hypoglycemia, hepatomegaly
cori disease (debranching enzyme deficiency) or von gierke (glucose 6 phosphate deficiency - more severe)
56
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defet
edwards syndrome (trisomy 18)
57
jaundaice, palpable distended NON-tender gallbladder
distal obstruction of biliary tree
58
male child, recurrent infections, no mature B cells
bruton's X-linked agammaglobulinemia
59
mucosal bleeding and prolonged bleeding time
glanzmann's thrombastenia (lack of Gp2b/3a causing defect in platelet aggregation)
60
multiple colon polyps, osteomas, impacted teeth
gardner syndrome (subtype of familial adenosis polyposis)
61
mypopathy (or infantile hypertrophic cardiomyopathy), exercise intolerance
pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
62
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumonia, mono, CLL)
63
painless jaundice
cancer of the pancreatic head obstructing the bile duct
64
pancreatic, pituitary, parathyroid tumors
MEN1
65
periorbital and peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
66
recurrent cold abcesses, eczema, high IgE
hyper IgE (Job syndrome - neutrophil chemotaxis abnormality)
67
bilateral renal cell carcinoma, hemangioplastomas, angiomatosis, pheochromocytoma
von hippel lindau (dominant tumor suppressor gene mutation)
68
retinal hemorrhages with pale centers
roth spots (bacterial endocarditis)
69
severe jaundice in neonate
crigler-najjar (congenital unconjugated hyperbilirubinemia)
70
short stature, cafe au lait spots, thumb defects, increased incidence of tumors, aplastic anemia
fanconi anemia (genetic loss of DNA crosslink repair, often progressing to AML)
71
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (Addison disease, increased ACTH)
72
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola virus)
73
smooth, moist, painless, wart-like lesions on genitals
condylomata lata (secondary syphilis)
74
splinter hemorrhages in fingernails
bacteria endocarditis
75
strawberry tongue
scarlet fever (strep pyogenes) or Kawasaki
76
swollen, hard, painful finger joits
osteoarthritis (osteophyes on PIP=Bouchard, DIP=heberden nodes)
77
telengiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria
osler-weber-rendu syndrome
78
thyroid and parathyroid tumors, pheochromocotyoma
MEN2A (RET mutation)
79
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (RET mutation)
80
urethritis, conjuctivitis, arthritis
reactive arthritis associated with HLA-B27
81
weight loss, diarrhea, arthritis, fever, adenopathy
whipple diesease (caused by tropheryma whipplei)
82
anticentromere antibodies
CREST scleroderma
83
anti-desmoglein antibodies
pemphigus vulgaris
84
anti-glomerular basement membrane antibodies
goodpasture syndrome
85
antihistone antibodies
drug-induced SLE (due to hydralazine, isoniazid, phenytoin, procainamide)
86
antimitochondrial antibodies
primary bilary cirrhosis (female, cholestasis, portal hyerptension)
87
anti-IgG antibodies
rhematoid arthritis
88
MPO antineutrophil cytoplasmic antibodies
aka p-ANCA:
| seen in BOTH microscopic polyangiitis (MPA) AND eosinophilic granulomatosis with polyangiitis (EGPA)
89
PR3 antineutrophil cytoplasmic antibodies
aka c-ANCA:
| seen in granulomatosis with polyangiitis (GPA)
90
antinuclear antibodies
aka ANA, anti-Smith, anti-dsDNA
| SLE (type 3 hypersensitivity)
91
antiplatelet antibodies
ITP
92
anti-topoisomerase antibodies
diffuse systemic scleroderma
93
anti-transglutaminase/anti-gliadin/anti-endomysial antibodies
celiac
94
apple core lesion on barium enema x-ray
left sided colorectal cancer
95
atypical reactive lymphocytes
EBV
96
azurophilic peroxidase granular inclusions in granulocytes and myeloblasts
Auer rods (seen in AML)
97
basophilic nuclear remnants in peripheral RBCs
howell jolly bodies (due to splenectomy)
98
basophilic stippling of RBCs
lead posioning
99
boot-shaped heart on x-ray
right heart failure (seen in tetralogy of fallot)
100
brown tumor of bone
hyperparathyroidism causing osteitis fibrosa cystica (deposited hemosiderin from hemorrhage)
101
chocolate cyst of ovaries
endometriosis
102
circular grouping of dark tumor cells surrounding pale neurofibrils in CNS
Homer-Wright rosettes (seen in neuroblastoma and medulloblastoma)
103
pseudomonas in lungs
cystic fibrosis (autosomal recessive mutation in CFTR gene)
104
decreased alpha fetal protein in amniotic fluid
down syndrome
105
desquamated epithelium casts in sputum
curshmann spirals - bronchial asthma
106
disarrayed epithelial cells arranged around collections of eosinophilic fluid in ovary
call exner bodies (granulosa cell tumor of ovary)
107
enlarged cells with intranuclear inclusion bodies
owl eye - CMV
108
enlarged thyroid cell with ground-glass nuclei and central clearing
orphan annie eye nuclei - papillary carcinoma of the thyroid
109
eosinophilic cytoplasmic includion in liver cells
mallory body (alcoholic liver disease)
110
eosinophilic cytoplasmic inclusions in nerve cell
Lewy body
111
eosinophilic globule in liver
councilman body (viral hepatitis or yellow fever)
112
eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons
Negri bodies of rabies
113
giant B cells with bilobed nuclei with prominent inclusions
Reed-Sternberg cells of Hodgkin lymphoma
114
glomerulus-like structure surrounding vessel in germ cells
schiller-duval bodies (seen in yolk sac tumors)
115
"hair on end" appearance on x-ray
beta thalassemia, sickle cell (bone marrow expansion)
116
elevated hCG
choriocarcinoma
hydatiform mole
multiple pregnancy
117
northern blots identify what
mRNA
118
western blots identify what
protein
119
southern blots identify what
DNA
120
role of TNFalpha
acute phase cytokine produced by macrophages, especially in sepsis (along with IL-1 and IL-6)
121
role of TGFbeta
anti inflammatory cytokine released by macrophages that inhibits the release of IL-1 and TNFalpha and fights sepsis
122
patient with painful subcutaneous nodules on legs, polyarthritis, fatigue, uveitis and pulmonary infiltrates
sarcoid
123
role of IFN gamma
activates macrophages and promotes granuloma formation
124
heterophile antibodies
infectious mononucleosis (EBV)
125
granulomatous heart nodules
aschoff bodies - rheumatic fever
126
honeycomb lunch on imaging
interstitial pulmonary fibrosis
127
hypercoagulability leading to migrating DVTs and vasculitis
trousseau syndrome - due to adenocarcinoma of pancreas or lung
128
hypertension, hypokalemia, metabolic alkalosis
conn syndrome - primary hyperaldosteronism
129
increased alpha fetal protein in amniotic fluid
neural tube defect
130
increased uric acid levels
gout
lesch nyhan
tumor lysis syndrome
loop and thiazide diuretics
131
intranuclear eosinophilic droplet-like bodies
cowdry bodies (HSV or VZV)
132
large granules in phagocytes plus immunodeficiency
chediak higashi
133
lead pipe appearance of colon on abdominal imaging
ulcerative colitis (loss of haustra)
134
linear IgG deposition on glomerular and alveolar basement membranes
goodpasture
135
lumpy bumpy glomeruli on IF
post strep glomerulonephritis (deposition of IgG, IgM and C3)
136
lytic "punched out" bone lesions on xray
multiple myeloma
137
M spike and abdominal pain and swelling
waldenstrom macroglobulinemia - monoclonal IgM proliferation and lymphoma (causing hepatosplenomegaly)
138
hemoptysis and hematuria
goodpasture (anti BM) or GPA (c-ANCA)
139
nutmeg liver
chronic passive congestion of liver (either due to right heart failure OR budd chiari)
140
periosteum raised from bone, causing triangle area on xray
codman triangle (ewing sarcoma, osteosarcoma, pyogenic osteomyelitis)
141
small blue cells in tumor of bone
ewing sarcoma
142
psammoma bodies
- meningiomas
- papillary thyroid carcinoma
- mesothelioma
- papillary serous carcinoma of the endometrium/ovary
143
RBC casts in urine
glomeruloneprhitis
144
muddy brown casts in urine
acute tubular necrosis
145
rectangular, crystal-like, cytoplasmic inclusions in Leydig cells
Reinke crystals (Leydig cell tumor)
146
renal epithelial casts in urine
intrinsic renal failure (ischemia or toxic injury)
147
sheets of medium-sized lymphoid cells with scattered pale tingible body-laden macrophages
"starry sky" burkitt lymphoma (c-myc 8:14 translocation)
148
silver-staining spherical aggregation of tau proteins in neurons
pick bodies (seen in pick dementia: progressive dementia, changes in personality)
149
"soap bubble" in femur or tibia
giant cell tumor of bone (generally benign)
150
spike and dome on basement membrane
membranous nephropathy
151
stacks of RBCs
- high ESR
| - multiple myeloma
152
steeple sign on chest xray
croup
153
stippled vaginal epithelial cells
clue cells (Seen in gardnerella vaginalis)
154
thyroid-like appearance of kidney
chronic pyelonephritis (recurrent infections)
155
tram track glumerular basement membrane
membranoproliferative glomerulonephritis
156
waxy casts in urine
chronic end stage renal disease
157
"smudged" white blood cells
CLL (almost always B cell)
158
wire loop glomerular capillary appearance
diffuse proliferative glomerulonephritis (especially lupus)
159
difficulty walking, blanching skin redness, recurrent sinopulmonary infections
ataxia-telengiectasia
160
severe bacterial and fungal infections with granuloma formation
chronic granulomatous disease
161
congeintal heart disease, dyspmorphic facies, hypocalcemia
diGeorge
162
severe bacterial/viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis
severe combind immunodeficiency
163
conjunctivitis, swelling of palms and soles, cracked, bright red lips
kawasaki
164
cell types that only have GLUT-4
muscle cells and adipocytes (insulin dependent)
165
hemolysis, ataxia, loss of deep tendon reflexes
vitamin E deficiency
166
baby with lethargy, protruding tongue, enlarged fontanelle, constipation, umbilical hernia and poor feeding
congenital hypothyroidism
167
mom had arthralgias, stillborn with pleural effusion, pulmonary hypoplasia and ascites
parvovirus B19 (naked ssDNA virus)
168
patient with abdominal pain and black stool, fever, weight loss, muscle pains, biopsy reveals transmural inflammation of mid-sized arterioles with eosin-staining necrosis
polyarteritis nodosa - associated with hep B/C
169
lens subluxation
marfans AND homocysteinuria
170
conjunctivitis, cough, buccal spots
measles/rubeola
171
mech of actin of nitrates
venodilation - reduced preload and reduced myocardial oxygen demand
172
family history of colorectal cancer, endometrial cancer and ovarian cancer
lynch syndrome - MSH mutation
173
family history of colorectal cancer, osteomas, brain tumors
familial adenomatous polyposis - APC mutation
174
family history of hemangioblastomas, clear cell renal carcinoma and pheochromocytomas
von hippel lindau
175
family history of sarcomas, breast cancer, brain tumors, leukemia and adrenocortical carcinoma
li-fraumeni syndrome
176
patient with benign hypercalcemia, low calcium in urine, high PTH and normal vitamin D
familial hypocalciuric hypercalcemia - caused by defective Gq protein-coupled calcium-sensing receptors
177
transamination reactions require what cofactor
B6 (Pyridoxine)
178
carboxylation reactions require what cofactor
B7 (Biotin)
179
transketolase requires what cofactor
B1 (thiamine)
180
which amino acids do you supplement in people with pyruvate dehydrogenase deficiency
lysine and leucine (ketogenic)
181
patient with conjunctivitis and pharyngitis
adenovirus
182
baby with decreased pyruvate dehydrogenase activity - what should they be given
lysine or leucine
