[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)].
The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. It can be asserted with the very low copper and cerulo-plasmin blood levels. Recognition of the disease in utero might be possible. New findings in skin' electron microscopy and hair' scanning electron microscopy are reported here. And two RX scanner of the brain have been performed.
D001928:Brain Diseases, Metabolic / Q000209:etiology / Q000473:pathology*; D003300:Copper / Q000378:metabolism; D006197:Hair / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*
D003300:Copper
Maladie de menkes anomalies ultrastructurales cutanéophanériennes nouvelles.