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Related Experiment Videos

Fatal lipid storage disorder.

T Matsuishi, E Ono, K Terasawa

    Brain & Development
    |January 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

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    A 12-week-old infant with acute hepatitis experienced severe lipid accumulation in muscles, mimicking Reye syndrome. This case highlights potential lipid metabolism disorders linked to fulminant hepatic failure.

    Area of Science:

    • Pediatric Pathology
    • Hepatology
    • Metabolic Disorders

    Background:

    • Reye syndrome is a rare but serious condition that causes swelling in the liver and brain.
    • Acute hepatitis can lead to severe liver dysfunction.

    Observation:

    • A 12-week-old infant presented with acute encephalopathy and was diagnosed with acute hepatitis due to positive HBs Ag and liver inflammation.
    • The infant exhibited excessive lipid accumulation in striated muscles, including the biceps brachii, tongue, and cardiac muscles.

    Findings:

    • Serum, liver, and muscle carnitine levels were normal.
    • Liver carnitine palmitoyltransferase (CPT) activity was significantly reduced.
    • The findings suggest a potential link between fulminant hepatic failure and abnormal lipid metabolism causing muscle lipidosis.

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    Implications:

    • This case underscores the importance of considering metabolic investigations in infants with unexplained encephalopathy and liver failure.
    • Understanding the precise metabolic defect could lead to targeted therapies for similar conditions.
    • Further research is needed to elucidate the specific pathway linking hepatic failure to muscle lipid accumulation.