[Neuropathology of trichopoliodystrophy (Menkes' disease). Anatomoclinical observation].
The authors describe an anatomo-clinical case of trichopoliodystrophy in many ways similar to cases already published. The original features of the case are as follows: the ultrastructure of the duodenal mucosa is normal; the endoplasmatic reticulum of the putaminal neurons contains many-layered lamellar structures probably composed of protein; type II fibres predominate in the striated skeletal muscle suggesting abnormal neuromuscular maturation.
D001766:Blindness / Q000175:diagnosis; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D006130:Growth Disorders / Q000175:diagnosis* / Q000473:pathology; D006197:Hair / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D009474:Neurons / Q000473:pathology; D013577:Syndrome
Neuropathologie de la trichopoliodystrophie (maladie de Menkes). Une observation anatomo-clinique