Summary
Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
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Renier, W.O., Gabreëls, F.J.M., Hustinx, T.W.J. et al. Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins. Acta Neuropathol 54, 11–17 (1981). https://doi.org/10.1007/BF00691328
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DOI: https://doi.org/10.1007/BF00691328