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Related Experiment Videos

X-linked congenital hydrocephalus.

W O Renier, B G Ter Haar, J L Slooff

    Clinical Neurology and Neurosurgery
    |January 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

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    This study details X-linked recessive congenital hydrocephalus (CHC) in a Dutch family, noting high mortality and cerebral cortex malformations. The defective gene impacts brain development and cerebrospinal fluid pathways, complicating genetic counseling.

    Area of Science:

    • Genetics
    • Neurology
    • Developmental Biology

    Background:

    • X-linked recessive congenital hydrocephalus (CHC) presents a significant challenge in genetic disorders.
    • High perinatal mortality rates are associated with severe forms of CHC.
    • Understanding the genetic basis of CHC is crucial for diagnosis and counseling.

    Observation:

    • A Dutch family exhibited ten cases of X-linked recessive CHC with high perinatal mortality.
    • Necropsy confirmed the diagnosis in three cases.
    • A key case revealed absence of aqueductal obstruction and congenital cerebral cortex malformation.

    Findings:

    • A defective X-chromosome gene is hypothesized to influence cerebral cortex development and extraventricular cerebrospinal fluid (CSF) pathways.

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  • Variable expressivity of the genetic defect leads to diverse phenotypic variants, including CHC and intellectual disability (MR).
  • The condition often presents as communicating hydrocephalus secondarily complicated by aqueductal narrowing.

    • Implications:

    • Genetic counseling for families with no prior history of X-linked CHC is difficult.
    • Current methods are insufficient for detecting heterozygote carriers of the CHC-associated gene.
    • Further research is needed to identify carriers and improve management strategies for X-linked hydrocephalus.