[Menkes disease: experience in copper salts therapy].
BACKGROUND
Menkes disease is an X linked genetic disorder of copper intracellular transport. The clinical effects are explainable by impaired activity of various copper-dependent enzymes. The classic form of the disease is characterized by: low temperature, impairment of growth, characteristic hair abnormalities (thin, breakable and grey-haired) and seizures with severe developmental retardation from birth. Treatment with various forms of copper salts has been used, but none of them effective.


METHODS
We report a patient diagnosed of Menkes disease at 12 months of age. Copper treatment was commenced at 14 months with 100 micrograms/kg daily intravenous infusion of copper sulphate. On the basis of copper and ceruloplasmin plasma levels, doses of treatment were controlled until a maintained dose of 1,000 micrograms intramuscular of copper sulphate every 17 days, until the age of 6 years. The effects of the treatment were marked by the normalization of the biochemical parameters, the growth development and the hair characteristics. However, no significant effect was shown on the seizures or the neurologic impairment. The patient died at the age of 7 years old.


CONCLUSIONS
Parenteral therapy for Menkes disease with various inorganic copper salts has been shown to get longer clinical course, but no successful effect on the devastating neurodegenerative progression of the disease.
Guitet
M
M
Servicio de Neurología, Hospital Sant Joan de Déu-Clínic, Barcelona, España.
Campistol
J
J
Medina
M
M
D002648:Child; D003300:Copper / Q000097:blood; D019327:Copper Sulfate / Q000627:therapeutic use*; D004569:Electroencephalography; D004576:Electromyography; D017809:Fatal Outcome; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000188:drug therapy*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
D003300:Copper; D019327:Copper Sulfate