[Menke's disease. A case report (author's transl)].
A seven month old male with Menkes' disease ("Kinky hair") is presented. Low ranges of copper and caeruloplasmin were found. The angiogram of all intracranial arteries revealed torturous form. Biopsy of an extracranial artery (branch of the temporal artery) was normal. Authors review previously reported cases and possible causes that can contribute to hypomyelination of central nervous system.
D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging; D002533:Cerebral Angiography; D002570:Ceruloplasmin / Q000172:deficiency; D003300:Copper / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000000981:diagnostic imaging / Q000473:pathology
D003300:Copper; D002570:Ceruloplasmin
Enfermedad de Menkes. Estudio de un caso