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Familial lethal sleep apnea.

E D Adickes, B A Buehler, W G Sanger

    Human Genetics
    |May 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies a link between lethal sleep apnea in children and subacute necrotizing encephalomyopathy (SANE). Early evaluation is crucial for children with unexplained sleep apnea and potential SANE.

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    Area of Science:

    • Pediatric Neurology
    • Genetics
    • Sleep Medicine

    Background:

    • Familial aggregation of sleep apnea in young children.
    • Absence of typical risk factors for sleep apnea in affected siblings.

    Observation:

    • Three siblings presented with severe, fatal sleep apnea between 18 and 26 months.
    • A fourth child exhibited severe sleep apnea from 7 weeks of age, leading to death at 31 months.
    • Neuropathological examination revealed lesions limited to brainstem respiratory centers.

    Findings:

    • The family exhibited an association between lethal sleep apnea and subacute necrotizing encephalomyopathy (SANE), also known as Leigh disease.
    • Affected individuals had minimal neurological symptoms but specific brainstem pathology.
    • Positive or borderline results for a thiamine triphosphate (TTP) inhibitor substance were found in affected children and family members.

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    Implications:

    • Highlights a rare genetic cause of pediatric sleep apnea linked to SANE.
    • Emphasizes the importance of comprehensive neurological and metabolic evaluations in cases of unexplained, severe pediatric sleep apnea.
    • Suggests a potential role for TTP metabolism in the pathogenesis of certain sleep apnea cases.