Clinical and biochemical aspects of trichopoliodystrophy.
The clinical and biochemical evaluation of 6 patients with trichopoliodystrophy indicates that the disease process can begin in utero and is related to a selective abnormality in copper metabolism. Examination of 2 infants on the first day of life revealed abnormal neurological signs, a characteristic hair abnormality, and elevated levels of copper and ceruloplasmin. Decreased hepatic copper levels and increased urinary copper excretion were documented during the first week. The 2 neonates demonstrated a progressive decrease in blood copper levels in the first month of life. Four infants identified at ages 2 to 11 months had low values for blood copper and ceruloplasmin. All infants had progressive neurological dysfunction, and 4 of the 6 died at ages ranging from 2 1/2 months to 5 1/2 years. Parenteral copper therapy achieved normal blood and hepatic copper levels in 1 patient, but the copper values in the cerebral cortex and white matter were significantly decreased compared to control specimens.
D000653:Amniotic Fluid / Q000032:analysis; D001923:Brain Chemistry; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002570:Ceruloplasmin / Q000032:analysis*; D003300:Copper / Q000032:analysis* / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000032:analysis; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D011247:Pregnancy; D015032:Zinc / Q000032:analysis
D003300:Copper; D002570:Ceruloplasmin; D015032:Zinc