Neonatal alexander disease: MR imaging prenatal diagnosis

Elida Vázquez, A. Macaya, N. Mayolas, S. Arévalo, M. A. Poca, G. Enríquez

    Research output: Contribution to journalArticleResearchpeer-review

    13 Citations (Scopus)

    Abstract

    Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the suggested diagnosis of Alexander disease. Molecular analysis confirmed a missense mutation in the GFAP gene. The literature contains little information on the fetal MR imaging findings that may allow prenatal diagnosis of AD.
    Original languageEnglish
    Pages (from-to)1973-1975
    JournalAmerican Journal of Neuroradiology
    Volume29
    Issue number10
    DOIs
    Publication statusPublished - 1 Nov 2008

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