Summary
A brother and sister developed a slowly progressive neurological disorder with cerebellar and pyramidal signs and mild dementia. The brother developed symptoms at 6 months and died aged 11 years; the sister developed symptoms at 3 years and died aged 18 years. At post-mortem both had severe widespread central nervous system demyelination with islands of preserved myelin, and small amounts of sudanophilic lipid products. Metachromatic material, globoid cells, and adrenal abnormalities were not seen. The features were those of Pelizaeus-Merzbacher disease (PMD). It has been proposed, on the basis of only a few family studies, that PMD is an X-linked recessive disorder. These cases suggest that autosomal recessive inheritance may occur.
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Pamphlett, R., Silberstein, P. Pelizaeus-Merzbacher disease in a brother and sister. Acta Neuropathol 69, 343–346 (1986). https://doi.org/10.1007/BF00688316
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DOI: https://doi.org/10.1007/BF00688316