Rapid Review - First Aid Flashcards
(485 cards)
Classic Presentations:
- gout
- intellectual disability
- self-mutilating behavior
- male
Lesch-Nyhan Syndrome
- HGPRT deficiency
- X-linked recessive
Classic Presentations:
- situs inversus
- chronic sinusitis
- bronchiectasis
- infertility
Kartagener Syndrome
- dynein arm defect affecting cilia
Classic Presentations:
- blue sclera
Osteogenesis Imperfecta
- type I collagen defect
Classic Presentations:
- elastic skin
- hypermobility of joints
- ↑ bleeding tendency
Ehlers-Danlos Syndrome
- type V collagen defect
- type III collagen defect seen in vascular subtype of ED
Classic Presentations:
- arachnodactyly
- lens dislocation (upward)
- aortic dissection
- hyperflexible joints
Marfan Syndrome
- fibrillin defect
Classic Presentations:
- café-au-lait spots (unilateral)
- polyostotic fibrous dysplasia
- precocious puberty
- multiple endocrine abnormalities
McCune-Albright Syndrome
- mosaic G-protein signaling mutation
Classic Presentations:
- calf pseudohypertrophy
Muscular Dystrophy
- most commonly Duchenne
- due to X-linked recessive frameshift mutation of dystrophin gene
Classic Presentations:
- child uses arms to stand up from squat
Duchenne Muscular Dystrophy
- Gowers sign
Classic Presentations:
- slow, progressive muscle weakness in boys
Becker Muscular Dystrophy
- X-linked missense mutation in dystrophin
- less severe than Duchenne
Classic Presentations:
- cleft lip/palate
- microcephaly or holoprosencephaly
- polydactyly
- cutis aplasia
Patau Syndrome
- Trisomy 13
Classic Presentations:
- microcephaly
- rocker-bottom feet
- clenched hands
- structural heart defect
Edwards Syndrome
- Trisomy 18
Classic Presentations:
- single palmar crease
Down Syndrome
Classic Presentations:
- dilated cardiomyopathy
- edema
- alcoholism or malnutrition
Wet Beriberi
- thiamine (vitamin B1) deficiency
Classic Presentations:
- dermatitis
- dementia
- diarrhea
Pellagra
- niacin (vitamin B3) deficiency
Classic Presentations:
- swollen gums
- mucosal bleeding
- poor wound healing
- petechiae
Scurvy
- vitamin C deficiency
- can’t hydroxylate proline/lysine for collagen synthesis
Classic Presentations:
- chronic exercise intolerance
- myalgia
- fatigue
- painful cramps
- myoglobinuria
McArdle Disease
- skeletal muscle glycogen phosphorylase deficiency
Classic Presentations:
- infant
- hypoglycemia
- hepatomegaly
Cori Disease
- debranching enzyme deficiency
Von Gierke disease
- glucose-6-phosphatase deficiency
- more severe
Classic Presentations:
- myopathy (infantile hypertrophic cardiomyopathy
- exercise intolerance
Pompe Disease
- lysosomal α-1,4-glucosidase deficiency
Classic Presentations:
- “cherry-red spots” on macula
Tay-Sachs
- ganglioside accumulation
Niemann-Pick
- sphingomyelin accumulation
Central Retinal Artery Occlusion
Classic Presentations:
- hepatosplenomegaly
- pancytopenia
- osteoporosis
- aseptic necrosis of femoral head
- bone crises
Gaucher Disease
- glucocerebrosidase deficiency
Classic Presentations:
- achilles tendon xanthoma
Familial Hypercholesterolemia
- ↓ LDL receptor signaling
Classic Presentations:
- anaphylaxis following blood transfusion
IgA Deficiency
Classic Presentations:
- male child
- recurrent infections
- no mature B cells
Bruton Disease
- X-linked agammaglobulinemia
Classic Presentations:
- recurrent cold (noninflamed) abscesses
- unusual eczema
- high serum IgE
Hyper-IgE Syndrome
- Job Syndrome
- neutrophil chemotaxis abnormality































