Classical presentations

Question 1

abdominal pain, ascites, hepatosplenomegaly

Answer 1

budd-chiari syndrome (post hepatic venous thromobosis)

Question 2

abdominal pain, diarrhoea, leukocytosis, recent antibiotic use

Answer 2

C. difficile infection

Question 3

achilles tendon xanthoma

Answer 3

familal hypercholesterolemia

Question 4

adrenal hemarrhage, hypotension, DIC

Answer 4

water house frederickson syndrome (meningococcemia)

Question 5

anaphylaxis following blood transfusion

Answer 5

IgA deficeincy

Question 6

Anterior drawer sign

Answer 6

anterior cruciate ligament

Question 7

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 7

marfan syndrome (fibrillin defect)

Question 8

athlete with polycythemia

Answer 8

2o to erythropoetin injection

Question 9

back pain, fever, night sweats

Answer 9

potts disease

Question 10

bilateral acoustic schanommas

Answer 10

Neurofibromatosis type 2

Question 11

bilateral hilar adenopathy, uveitis

Answer 11

sarcoidosis

Question 12

black eschar on face on patients with DKA

Answer 12

mucor or rhizopus

Question 13

blue sclera

Answer 13

osteogenesis imperfecta (type 1 collagen defect)

Question 14

bluish line on gingiva

Answer 14

burton line (lead poisoning)

Question 15

bone pain, bone enlargement, arthritis

Answer 15

pagets disease of the bone (increased osteoblatic and osteoclastic activity)

Question 16

cafe-au-lait spots, lisch nodules (iris hamartoma) cuaneous neurofibroma, pheochromocytoma, optic gliomas

Answer 16

neufibromatosis type 1, pheochromocytoma, optic glioma

Question 17

cafe-au-lait spots (unilateral), poly ostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Answer 17

Mc-Cune albright syndrome (mosaic G-protein signaling mutation)

Question 18

calf pseudohypertrophy

Answer 18

muscular dystropy (most commonly duchene)

Question 19

MM of duchene

Answer 19

x-linked recessive frameshift mutation of dysrophin gene)

Question 20

MM of Mc-Cune albright syndrome

Answer 20

mosaic G-protein signaling mutation

Question 21

cervical lymphadenopathy, desqamating rash, coronory aneurisms, red conjucive and toungue

Answer 21

kawasaki disease (treat with IVIG and aspirin)

Question 22

cherry red spots on macula

Answer 22

tay sachs disease or Nieman pick disease, central retinal artery occlusion

Question 23

MM of tay sachs disease

Answer 23

ganglioside accumulation

Question 24

MM of Nieman pick disease

Answer 24

sphingomyelin accumulation

Question 25

chest pain, pericardia effusion/friction rub, persistent fever following MI

Answer 25

Dressler syndrome (auto-immune medited post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

Question 26

chest pain with ST depression on EKG

Answer 26

unstable angina (troponin -) or NSTEMI (troponins+)

Question 27

child use arms to stand up from sqat

Answer 27

gowers sign (duchenne MD)

Question 28

child with fever later develop red rash on face that spread to the body

Answer 28

slapped cheeks (erythema infectiosum/fifth disease; parvovirus B19)

Question 29

chorea, dementia, caudate degeneration

Answer 29

huntingtons disease (autosomal dominant CAG repetiion)

Question 30

chorioretinits, hydrocephalus, intracranial calcifications

Answer 30

congenital toxoplasmosis

Question 31

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

Answer 31

McArdles disease

Question 32

MM of McArdle’s disease

Answer 32

sk. mm. glycogen phosphorylase def

Question 33

cold intolerance

Answer 33

hypothyroidism

Question 34

conjugate horizontal gaze palsy, horizontal diplopia

Answer 34

internulear ophalmoplegia (damage to MLF may be unilateral or bilateral)