Microcephaly with peculiar demyelination mimicking Pelizaeus-Merzbacher disease.
The neuropathological studies of a 4-year old idiot with microcephaly revealed a striking demyelinating disease compatible with Pelizaeus-Merzbacher disease. The case seemed to be best classified as the patchy demyelination type, but the most unusual finding was a prominent vasculature in some demyelinated areas. Intrauterine hypoxia was proposed as a causative factor of this type of demyelinative lesions.
D001344:Autopsy; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000150:complications; D006801:Humans; D000860:Hypoxia / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy