Rapid Review Flashcards
(27 cards)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
The ff clinical manifestations may be seen in:
- Situs inversus
- Chronic sinusitis
- Bronchiectasis
- Infertility
Kartagener syndrome (dynein arm defect affecting cilia)
The patient has BLUE SCLERAE, what diagnosis?
Osteogenesis imperfecta (type 1 collagen defect)
The ff manifestations can be seen in the patient:
- Elastic skin
- Hypermobility of joints
- Increase bleeding tendency
Ehlers-Danlos Syndrome (type V collagen defect, type 3 collagen defect seen in vascular subtype of ED)
Main manifestations of this disease are the ff:
- Hyperflexible joints
- Arachnodactyly
- Lens dislocation (upward)
- Aortic dissection
Marfan Syndrome (fibrillin defect)
Classic presentations are:
- Cafe au lait spots (unilateral)
- Polyostatic fibrous dysplasia
- Precocious puberty
- Multiple endocrine neoplasia
McCune Albright Syndrome (mosaic G protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly duchenne, d/t X-linked recessive frameshift mutation of dystrophin gene)
Child uses arms to stand up from squat
Duchenne Muscular Dystrophy (Gowers sign)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchenne)
Ff are manifestations seen on the patient: Infant with cleft lip/palate Microcephaly or holoprosencephaly Polydactyly Cutis aplasia
Patau syndrome (trisomy 13)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s syndrome (trisomy 18)
Single palmar crease
Down syndrome
This condition can be seen in patient:
Dilated cardiomyopathy
Edema
Alcoholism or malnutrition
Wet beri beri (thiamine or vit b1 deficiency)
3Ds
Dermatitis
Dementia
Diarrhea
Pellagra (niacin, vitamin B3 deficiency)
Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
Scurvy (Vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphate deficiency), more severe
Myopathy (infantile hypertrophic cardiomyopathy), exercise tolerance
Pompe disease (lysosomal alpha 1 -4 glucosidase deficiency)
Cherry red spots on macula
Tay Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Hepatosplenomegaly Pancytopenia Osteoporosis Aseptic necrosis or femoral head Bone crises
Gaucher disease (glucocerebrosidase deficiency)
Achilles tendon xanthoma
Familial hypercholesterolemia (low LDL receptor signaling)
Anaphylaxis following blood transfusion
IgA deficiency
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Recurrent cold (noninflamed)
Abscesses
Unusual eczema
High serum igE
HyperigE syndrome (Job syndrome: neutrophil chemotaxis abnormality)