Congenital Pelizaeus-Merzbacher disease (Seitelberger type), malformation and cystic degeneration of the central nervous system.
The present paper reports on the case of a neonate child with multiple malformations affecting osteogenesis and the central nervous system (microcephaly, pachygyria). Morphologically, myelin staining supplied evidence of the total lack of myelin sheaths (myelin aplasia). The cerebellar cortex was malformed and altered by cystic degeneration. Electron microscopy confirmed the aplasia of the myelin sheaths and revealed the presence of concentric multilamellar formations in the glial cells (myelination glia), and in areas of cystic degeneration. The morphologic aspects clearly showed the relationship of this congenital aplasia of the myelin sheaths with the congenital Pelizaeus-Merzbacher disease (Seitelberger type). The cystic degeneration differs from the spongy degeneration of the brain (van Bogaert-Bertrand disease) and should be considered a result of maldeveloped nervous tissue.
D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009186:Myelin Sheath / Q000473:pathology