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15 Cards in this Set
- Front
- Back
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Inborn errors of metabolism:
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Caused by absence/def. of a substance essential to cellular metab., usually an enzyme. Asymptomatic for first 24h. Infant inherits defect from both parents (Autosomal recessive).
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Congential Hypothyroidism:
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Permanent def. of thyroid hormone. Usually causes down's syndrome.
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S/S of Congential Hypothyroidism: (newborn)
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Lethargic, poor feeding ablitities, resp. problem, horse-sounding cry, ususally born after 40wks, "good babies". Symptoms may be delayed if BF
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S/S of Con. Hypothyroidism: (6wks)
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Depressed nasal ridge, short forehead, puffy eyes, lg. tongue, thick, cool dry skin, dry coarse hair.
-Ab. distention -Hypoflexia -Hypothermia -Hypotonia -Bradycardia -Severe mental retardation -Bone age retardation |
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Diag. Eval. for Con. Hypothyroidism:
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Mandantory. Low T4 and high TSH
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Tx. of Con. Hypothy.:
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Synthroid (for life).
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Phenylketonuria (PKU):patho
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Genetic disease that results in the body's inability to metablize phenylalinine, increase levels of it= CNS damage
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S/S of PKU:
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-Failure to thrive
-Freq. vomiting -Irritability -Hyperactivity -Unpredictable bizarre behavior -Seizures -Must odor in urine/sweat -Light skin blue eyes |
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PKU Tx.:
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eat only juices, fruits, veggies, breads, pastas
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Galactosemia:
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Autosomal recessive. Absence of enzyme galactose-> cant breakdown galactose into glucose. High levels of galactose are extremely toxic to kidneys lever and NS.
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S/S of Galactosemia:
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-Liver dis. fn.
-Spleen enlargement -Cataracts -Vomiting/weightloss -Brain damage death if untreated |
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Tx. of Gala.:
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No milk!! Elimination of lactose containing food including breast milk
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TORCH:
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-Toxoplasmosis
-Other (hep., parvovirus, varicella) -Rubella -Cytomegalovirus -Herpes |
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Hydrocele:
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collection of peritoneal fluid in testicle, usually will disappear
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Hypospardius:
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urethral opening on underside of penis, may look like ambiguous genitalia, surgery
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