Rare Peds Disorders Flashcards
Alagille Syndrome
Cholestasis (persistent conjugated jaundice)
peripheral pulmonary stenosis
posterior embryotoxon
Triangle face w/ wide nasal bridge
butterfly vertebrae
Auto dominant problem w/ chromosome 20
PKU
Infantile spasms / sz
Microcephaly
deficiency in enzyme that converts phenylalanine to tyrosine (high phenylalanine in urine)
Albinism and must odor
Dec phenylalanine in diet
Urea Cycle Disorders
Encephalopathy during acute stress b/c inc ammonia
Low protein, high glucose diet
Most common = OTC deficiency (X-linked rec)
Maple Syrup Urine Disease
Cannot break down branched chain AA (valine, leucine, isoleucine) –> organic acids in urine
Sx = dehydration and metabolic acidosis
Spinal Muscular Atrophy
Lower motor neuron (degradation of anterior horn cells)
Progressive, symmetric proximal weakness, dec reflexes, fasciculations
SMN1 gene deletion
SUPPORTIVE
Tuberous Sclerosis
Auto dominant
seizures, ash leaf spots, shagreen patches, cardiac hamartomas
Dandy-Walker
Macrocephaly/ hydrocephalus
Cystic dilation of 4th ventricle
Need shunt
Ataxis Telangiectasia
ATM repair protein mutation
Progressive ataxia
Humoral immune deficiency –> sinopulmonary infections
Telangiectasias on skin
Inc incidence of lymphoid and solid malignancies (OCULAR, lymphoma and leukemia)
Friedrich Ataxia
Progressive ataxia
Hearing and vision loss
Hypertrophic cardiomyopathy
DM
Osteogenesis Imperfecta
Mutation in type 1 collagen –> fractures
Auto dominant
B - bone fractures (even in utero)
I - eyes (blue sclera)
T - teeth (brittle)
E - ears (hearing loss)
Tx - bisphosphonates, Ca, Vit D
Diamond Blackfan Anemia
Congenital inability to make RBCs –> macrocytic anemia with low reticulocyte count
Predisposition to malignancies
Tx - steroids, transfusions, stem cell transplant
Chediak-Higashi Syndrome
Recurrent bacterial infections, albinism, coagulation defects and peripheral neuropathy / autonomic issues
No phagolysosome formation (cannot kill phagocytosed bacteria)
See giant lysosomes under microscope
Tx - G-CSF in infection
Shwachman-Diamond Syndrome
Auto recessive
BM dysfunction (pancytopenia), exocrine pancreatic insufficiency, skeletal abnormalities, predisposition for leukemia
Edward’s Syndrome
Small jaw, prominent occiput, low set ears, clenched hands, rocker bottom feet
Trisomy 13
Cutis aplasia
Extra fingers
Holoprosencephaly
