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[Acute encephalopathy and recurrent hepatic steatosis with normal long and medium chain fatty acyl-CoA-dehydrogenase

M H Marandian, A Soltanabadi, M Rakchan

    Archives Francaises De Pediatrie
    |May 1, 1987
    PubMed

    Insights

    A boy experienced recurrent encephalopathy and liver steatosis, suggesting a metabolic disorder affecting lipid metabolism. Despite normal tests for fatty acid oxidation, autopsy revealed significant steatosis, pointing to an unknown metabolic defect.

    Area of Science:

    • Biochemistry
    • Pediatric Medicine
    • Metabolic Disorders

    Background:

    • Investigating a rare pediatric case of recurrent acute encephalopathy and hepatic steatosis.
    • Focusing on metabolic pathways, particularly lipid metabolism, as a potential cause.

    Observation:

    • Patient presented with recurrent episodes of acute encephalopathy and hepatic steatosis from 13 months to 40 months of age.
    • Intermittent normal clinical status between episodes.
    • Biologic findings included labile hypoglycemia, hyperammonemia without correlation to neurologic symptoms, and failure to produce ketones during fasting.

    Findings:

    • Normal plasma carnitine levels and normal long/medium-chain acyl-CoA dehydrogenase activity in fibroblasts.
    • Autopsy revealed marked hepatic and renal tubular steatosis and foamy histiocytes in bone marrow.
    • Absence of organic aciduria during fasting.

    Implications:

    • Suggests a potential novel defect in lipid metabolism not detectable by standard biochemical assays.
    • Highlights the importance of considering metabolic derangements in unexplained pediatric encephalopathy and steatosis.
    • Further research needed to identify the specific metabolic pathway affected.

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