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[Agyria--a clinico-pathological study (author's transl)]

J Rudel, R Warzok, D Schreiber

    Zentralblatt Fur Allgemeine Pathologie U. Pathologische Anatomie
    |January 1, 1982
    PubMed
    Summary
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    This study presents a rare case of near-complete agyria, a brain malformation where cerebral convolutions are absent. Autopsy revealed significant developmental abnormalities, offering insights into neuronal migration disorders.

    Area of Science:

    • Neuroscience
    • Developmental Biology
    • Pathology

    Background:

    • Agyria is an extremely rare congenital brain malformation characterized by the absence of cerebral convolutions.
    • It results from an arrest in neuronal migration during early fetal development.
    • Understanding agyria is crucial for diagnosing and potentially managing severe neurological disorders.

    Observation:

    • A case of near-complete agyria in a 2-year-old boy is detailed.
    • Autopsy revealed the absence of convolutions in the frontal, parietal, and occipital lobes bilaterally.
    • Discrete convolutions were present in the temporal lobes, with thickened cortex and thin white matter.

    Findings:

    • The brain exhibited near-complete lissencephaly (smooth brain) with significant cortical thickening (up to 22 mm).

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  • Markedly reduced white matter thickness, particularly in the occipital regions (up to 2 mm), was observed.
  • Internal hydrocephalus was a co-occurring condition, indicating cerebrospinal fluid circulation issues.

    • Implications:

    • This case provides valuable pathoanatomical data for understanding the spectrum of neuronal migration disorders.
    • It highlights the severe structural brain abnormalities associated with agyria.
    • Further research into the pathogenetic mechanisms of agyria may inform future diagnostic and therapeutic strategies for brain malformations.