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Related Experiment Videos

Brain anomalies found in 18 trisomy: CT scanning, morphologic and morphometric study.

Y Nakamura, T Hashimoto, Y Sasaguri

    Clinical Neuropathology
    |March 1, 1986
    PubMed
    Summary

    This study identified characteristic brain anomalies in trisomy 18, including cerebellar and pontine hypoplasia. These findings in 18 trisomy cases highlight specific neurodevelopmental patterns.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Developmental Biology

    Background:

    • Trisomy 18 (Edwards syndrome) is a genetic disorder associated with severe developmental abnormalities.
    • Brain anomalies are common in trisomy 18, but specific patterns require detailed characterization.

    Purpose of the Study:

    • To report and characterize brain anomalies in cytogenetically confirmed cases of trisomy 18.
    • To identify characteristic neuroanatomical findings in trisomy 18 using cranial computed tomography and morphometric analysis.

    Main Methods:

    • Nine cases of cytogenetically proven trisomy 18 were analyzed for brain anomalies.
    • Cranial computed tomography (CT) was performed on all cases.
    • Comparative morphometric study using age-matched controls was conducted.

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    Main Results:

    • All nine cases exhibited hypoplasia of the cerebellum and ventral pons.
    • CT revealed cerebellar and pontine hypoplasia, sometimes with posterior cranial fossa hypoplasia, as a characteristic finding.
    • Macroscopic analysis showed a reduced cerebellum and brain stem to whole brain weight ratio; microscopic analysis revealed reduced cerebellar internal granular layer thickness.

    Conclusions:

    • Cerebellar and pontine hypoplasia are characteristic neuroanatomical findings in trisomy 18.
    • These findings suggest specific patterns of brain development disruption in trisomy 18.
    • The study provides valuable data for understanding the neurobiology of trisomy 18.