Seitelberger's connatal form of Pelizaeus-Merzbacher Disease. Case report, clinical, pathological and biochemical findings.
A case of Seitelberger's connatal form of Pelizaeus-Merzbacher disease is reported. He lived to the age of 13 and was able to recognize persons. Both is unusual in this disease. Some of the few myelin sheaths had two different periodicities (150 and 90 A). Intranuclear inclusions similar to Hirano's cytoplasmic eosinophilic rodlets were observed. The findings of connatal form of Pelizaeus-Merzbacher disease are compared with those of dysmyelinating mice (Jimpy and Quacking) and of manipulated myelinating tissue cultures. The possibility is considered, that the alterations in these dysmyelinating human and animal conditions are caused by extraneural circulating factors.
D000293:Adolescent; D001344:Autopsy; D001921:Brain / Q000473:pathology; D002467:Cell Nucleus; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000151:congenital* / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath; D010375:Pedigree