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  • Title: Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.
    Author: Renier WO, Gabreëls FJ, Hustinx TW, Jaspar HH, Geelen JA, Van Haelst UJ, Lommen EJ, Ter Haar BG.
    Journal: Acta Neuropathol; 1981; 54(1):11-7. PubMed ID: 7234326.
    Abstract:
    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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