THE NEONATAL PROGEROID SYNDROME (WIEDEMANN-RAUTENSTRAUCH) AND ITS RELATIONSHIP TO PELIZAEUS-MERZBACHERS DISEASE

The neuropathology of a clinically well-documented case of the neonata l progeroid syndrome Wiedemann-Rautenstrauch is described. The most st riking feature was a nearly complete absence of mature myelin in the b rain, When immunohistochemistry for myelin basic protein was applied, some subcortical nerve fibres were accompanied by immature myelin shea ths, The neuropathology corresponds exactly to that of Pelizaeus-Merzb acher disease (Seitelberger type), Furthermore, this morphology, with the presence of myelin basic protein in the absence of mature myelin s heaths is reminiscent of the early stages of myelination in the newbor n. From a brief review of the literature on Wiedemann-Rautenstrauch sy ndrome, we conclude, that the neuropathology of the syndrome is hetero geneous, and that there is a relationship between the progeroid aspect and pathological myelination.