Variability in clinical expression of Menkes syndrome

Eur J Pediatr. 1988 Nov;148(2):132-5. doi: 10.1007/BF00445920.

Abstract

Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases, Metabolic* / genetics
  • Copper / therapeutic use
  • Humans
  • Infant, Newborn
  • Menkes Kinky Hair Syndrome* / drug therapy
  • Menkes Kinky Hair Syndrome* / genetics
  • Prognosis

Substances

  • Copper