A Sporadic Case of Presumed Pelizaeus-Merzbacher Disease

Publisher Website
Google Scholar
Abstract
We present the case of a 9-year-old girl, without a significant family history, who at the age of one year developed a slowly progressive clinical picture consisting of atrophy of the optic disc, nystagmus, ataxia, spasticity, abnormal movements and moderate oligophrenia. Pneumoencephalography showed cerebellar atrophy. A cerebral biopsy demonstrated changes in the white matter suggestive of an ‘amyelinating’ process similar to that described in Pelizaeus-Merzbacher’s disease. The nosology of sporadic cases of this disease is discussed, and the authors feel that they should be included in the corresponding variety (conatal, infantile, or late infantile), according to their clinical picture and evolution.

This publication has 0 references indexed in Scilit: