MENKES DISEASE - (NEW SKIN AND HAIR ULTRASTRUCTURAL ABNORMALITIES)

  • 1 January 1978
    • journal article
    • research article
    • Vol. 105  (5) , 493-498
Abstract
The 6th case of Menkes'' kinky hair disease is reported. The boy was observed for 16 mo., and is still alive at the time of publication. This genetic, X-linked disorder of Cu metabolism is always fatal in childhood. Diagnosis is based on the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. Very low Cu and ceruloplasmin blood levels are shown. Recognition of the disease in utero might be possible. New findings in skin EM and hair scanning electrom microscopy are reported. Two RX scans of the brain were performed.