[Menkes syndrome: study of 2 new cases].
The authors describe two new cases of Menkes' syndrome, both of which belong to the same family. Clinically, one of them began with a convulsive encephalopathy and the most significant features observed in the other were psychomotor delay and changes in the hair. In both cases, the quantity of copper and ceruloplasmin was very low. A description is given of the clinical, electroencephalographic and radiological findings and a microscopic study of the hair. One of them died at the age of 16 months and the other is at present 2 5/12 years old and demonstrates a serious psychomotor delay. Given the inefficiency of the treatment, genetic counsel and prenatal diagnosis are the only useful alternatives for the control of this phenomenon.
Olivares López
J L
JL
Hospital Clinico Universitario, Facultad de Medicine, Universidad de Zaragoza.
Tosao Sánchez
A
A
Cerdá
M P
MP
Carapeto
F J
FJ
D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002339:Carotid Arteries / Q000000981:diagnostic imaging; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D010375:Pedigree; D014567:Urography
Síndrome de Menkes: estudio de dos nuevas observaciones.