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Hirschsprung's disease and mongolism.

A K Leung, C Y Mui, J T Lau

    Journal of the National Medical Association
    |May 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Hirschsprung disease, a congenital condition, can affect children with Down syndrome (mongoloid). Severe constipation in these children warrants investigation for this condition.

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    Area of Science:

    • Pediatric Gastroenterology
    • Clinical Genetics

    Background:

    • Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
    • Down syndrome (formerly mongoloid) is a genetic disorder associated with various health issues, including gastrointestinal anomalies.

    Observation:

    • This report details two pediatric cases of Hirschsprung disease in patients with Down syndrome.
    • Both patients presented with severe constipation, a common but significant symptom.

    Findings:

    • The study highlights a potential association between Down syndrome and Hirschsprung disease.
    • Early recognition of severe constipation is crucial for timely diagnosis in affected children.

    Implications:

    • Healthcare providers should consider Hirschsprung disease in the differential diagnosis for severe constipation in children with Down syndrome.

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  • Prompt investigation can lead to earlier intervention and improved patient outcomes for Hirschsprung disease.