FA Rapid Review Flashcards
(38 cards)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome
- HGPRT deficiency, XLR inheritance
Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility
Primary ciliary dyskinesia or Kartagener syndrome (Dynein arm defect affecting cilia)
Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyper flexible joints
Marfan syndrome (Fibrillin defect)
Arachnodactyly (long slender fingers), pectus deformity, lens dislocation (downward)
Whats the dx and inheritence pattern?
Homocystinuria (autosomal recessive)
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (Gs-protein activating mutation)
What is the defect in cystic fibrosis?
CFTR gene, chromosome 7, delta-F508
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to XLR frameshift mutation of dystrophin gene
Child uses arms to stand up from squatting
Gowers sign, seen in Duchenne musclar dystrophy
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne
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
Edwards syndrome (Trisomy 18)
Single palmar crease, intellectual disability
Down syndrome (trisomy 21)
Microcephaly, high pitched cry, intellectual disability
Cri-du-chat (cry of the cat) syndrome
Confusion, ophthalmoplegia/nystagmus, ataxia
Wernicke encephalopathy (add confabulation/ memory loss for Korsakoff syndrome)
Dilated CM/ high-output failure, edema, alcoholism, or malnutrition
Wet beri-beri (Vitamin B1 definition)
Burning Feet syndrome
Vitamin B5 deficiency (Pantothenic Acid)
Tea and toast puts you at risk for what?
Vitamin C deficiency
Vitamin D deficiency in children vs adults
Children is Rickets vs Osteomalacia in adults
Intellectual disability, musty body odor, hypo pigmented skin, eczema
Phenylketonuria
- deficiency in Phenylalanine Hydroxylase (PAH)
- AR inheritence
- Tyrosine should be supplied in the diet
- Avoid sweetener Aspartame, because it contains Phenylalanine
Bluish-blask connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air. +/- debilitating arthralgias
Alkaptonuria (homogentisate oxidase deficiency; ochronosis)
- AR inheritance
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance)
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
Infant with hypoglycemia, hepatomegaly
- Cori disease (debranching enzyme deficiency)
- Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (Skeletal muscle glycogen phosphorylase deficiency)
Cherry red spots on macula
- Tay-Sachs (ganglioside accumulation; no hepatosplenomegaly)
- Niemann-Pick disease (sphingomyelin accumulation; hepatosplenomegaly)
- central retinal artery occlusion
