Rapid Review

Question 1

Gout, intellectual disability, self-mutilating behavior in a boy

Answer 1

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Question 2

The ff clinical manifestations may be seen in:

1. Situs inversus
2. Chronic sinusitis
3. Bronchiectasis
4. Infertility

Answer 2

Kartagener syndrome (dynein arm defect affecting cilia)

Question 3

The patient has BLUE SCLERAE, what diagnosis?

Answer 3

Osteogenesis imperfecta (type 1 collagen defect)

Question 4

The ff manifestations can be seen in the patient:

1. Elastic skin
2. Hypermobility of joints
3. Increase bleeding tendency

Answer 4

Ehlers-Danlos Syndrome (type V collagen defect, type 3 collagen defect seen in vascular subtype of ED)

Question 5

Main manifestations of this disease are the ff:

1. Hyperflexible joints
2. Arachnodactyly
3. Lens dislocation (upward)
4. Aortic dissection

Answer 5

Marfan Syndrome (fibrillin defect)

Question 6

Classic presentations are:

1. Cafe au lait spots (unilateral)
2. Polyostatic fibrous dysplasia
3. Precocious puberty
4. Multiple endocrine neoplasia

Answer 6

McCune Albright Syndrome (mosaic G protein signaling mutation)

Question 7

Calf pseudohypertrophy

Answer 7

Muscular dystrophy (most commonly duchenne, d/t X-linked recessive frameshift mutation of dystrophin gene)

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 missense mutation in dystrophin, less severe than Duchenne)

Question 10

Ff are manifestations seen on the patient: 
Infant with cleft lip/palate 
Microcephaly  or holoprosencephaly 
Polydactyly
Cutis aplasia

Answer 10

Patau syndrome (trisomy 13)

Question 11

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Answer 11

Edward’s syndrome (trisomy 18)

Question 12

Single palmar crease

Answer 12

Down syndrome

Question 13

This condition can be seen in patient:
Dilated cardiomyopathy
Edema
Alcoholism or malnutrition

Answer 13

Wet beri beri (thiamine or vit b1 deficiency)

Question 14

3Ds
Dermatitis
Dementia
Diarrhea

Answer 14

Pellagra (niacin, vitamin B3 deficiency)

Question 15

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

Answer 15

Scurvy (Vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

Question 16

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

Answer 16

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

Question 17

Infant with hypoglycemia, hepatomegaly

Answer 17

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphate deficiency), more severe

Question 18

Myopathy (infantile hypertrophic cardiomyopathy), exercise tolerance

Answer 18

Pompe disease (lysosomal alpha 1 -4 glucosidase deficiency)

Question 19

Cherry red spots on macula

Answer 19

Tay Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Question 20

Hepatosplenomegaly 
Pancytopenia 
Osteoporosis 
Aseptic necrosis or femoral head
Bone crises

Answer 20

Gaucher disease (glucocerebrosidase deficiency)

Question 21

Achilles tendon xanthoma

Answer 21

Familial hypercholesterolemia (low LDL receptor signaling)

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 agammaglobulinemia)

Question 24

Recurrent cold (noninflamed)
Abscesses
Unusual eczema
High serum igE

Answer 24

HyperigE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

Question 25

Strawberry tongue

Answer 25

Scarlet fever

kawasaki disease

Question 26

Adrenal hemorrhage
Hypotension
DIC

Answer 26

Waterhouse Friedrichsen syndrome (meningococcemia)

Question 27

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 27

Klebsiella pneumoniae pneumonia