[Menkes disease: anatomoclinical study].
This paper presents the anatomoclinical study accomplished on a patient with Menkes Syndrome, which shows typical clinical, radiological and anatomopathological changes, as well as very low levels of copper. The hair changes observed with scanning electronmicroscopy are shown. Through the study of the literature the actual controversy on this disease is analyzed.
D001842:Bone and Bones / Q000002:abnormalities; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D002536:Cerebral Arteries / Q000002:abnormalities; D002570:Ceruloplasmin / Q000172:deficiency; D003300:Copper / Q000172:deficiency; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood / Q000473:pathology*; D012640:Seizures / Q000209:etiology
D003300:Copper; D002570:Ceruloplasmin
Enfermedad de menkes: estudio anatomoclínico.