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Alexander's disease.

J J Townsend, J F Wilson, T Harris

    Acta Neuropathologica
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Alexander's disease can develop before birth, presenting extensively at birth even before myelination begins. This pathologic report details the first in utero case of this rare infantile neurodegenerative disorder.

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    Area of Science:

    • Neuropathology
    • Pediatric Neurology
    • Developmental Biology

    Background:

    • Alexander's disease is a rare, progressive, and fatal leukoencephalopathy.
    • It is characterized by the presence of Rosenthal fibers and megalencephaly.
    • Genetic mutations in the glial fibrillary acidic protein (GFAP) gene cause Alexander's disease.

    Observation:

    • This study presents the first pathologic report of an infant diagnosed with Alexander's disease at 37 weeks' gestation.
    • The infant was diagnosed with the infantile form of Alexander's disease.
    • Autopsy findings revealed extensive disease pathology.

    Findings:

    • The findings confirm that Alexander's disease can manifest and develop during the fetal period (in utero).
    • Pathologic changes were extensive at birth, predating the onset of myelination.

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  • This suggests a potential prenatal origin and rapid progression of the disease.

    • Implications:

    • This case highlights the importance of considering prenatal diagnosis for Alexander's disease.
    • Understanding the in utero origins can inform future research into disease mechanisms and therapeutic interventions.
    • Early detection and intervention strategies may be crucial for managing this severe infantile neurodegenerative condition.