CLASSIC PRESENTATIONS I

Question 1

gout, intelluctual disability, self mutilating behavior ina a boy

Answer 1

lesch-nyhan syndrome (HGPRT deficiency, x-linked recessive)

Question 2

situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 2

kartagener syndrome (dynein arm defect affecting cilia)

Question 3

blue sclera

Answer 3

osteogenesis imperfecta (type I collagen defect)

Question 4

elastic skin, hypermobility of joints, increase bleeding tendency

Answer 4

Ehlers-danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

Question 5

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 5

marfan syndrome (fibrillin defect)

Question 6

cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocoious puberty, multiple endocrine abnormalities

Answer 6

McCune-Albright syndrome (G1-protein activiating mutation)

Question 7

calf pseudohypertrophy

Answer 7

muscular dystrophy

duchenne, x-linked recessive frameshift mutation of dystrophin; less severe than duchenne

Question 8

child uses arms to stand up from squat

Answer 8

duchenne muscular dystrophy (gowers sign)

Question 9

slow, progressive muscle weakness in boys

Answer 9

becker muscular dystrophy (x-linked non frameshift deletions in dystrophin; less severe than duchenne)

Question 10

infant with cleft lip/palate, microencephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 10

Patau syndrome (trisomy 13)

Question 11

infant with microencephaly, rocker bottom feet, clenched hands and structural heart defect

Answer 11

edwards syndrome (trisomy 18)

Question 12

single palmar crease

Answer 12

down syndrome

Question 13

dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 13

wet beriberi (thiamine, B1 deficiency)

Question 14

dermatitis, dementia, diarrhea

Answer 14

pellagra (niacin, B3 deficiency)

Question 15

swollen gums, mucosal bleeding, poor wound healing, petachiae

Answer 15

scurvy

Question 16

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

Answer 16

McArdle disease

Question 17

infant with hypoglycemia, hepatomegaly

Answer 17

Cori disease or Von Gierke disease

Question 18

myopathy, exercise intolerance

Answer 18

Pompe disease

Question 19

cherry red spots on macula

Answer 19

Tay-sachs or Niemann-Pick occlusion

Question 20

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

Answer 20

gaucher disease

Question 21

achilles tendon xanthoma

Answer 21

familial hypercholesterolemia

Question 22

anaphylaxis following blood transfusion

Answer 22

IgA deficiency

Question 23

male child, recurrent infections, no mature B cells

Answer 23

Bruton disease (x-linked agammaglobinemia)