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Related Experiment Videos

Liver involvement in Alpers disease.

M R Narkewicz1, R J Sokol, B Beckwith

  • 1Section of Pediatric Gastroenterology and Nutrition University of Colorado Health Sciences Center, Denver.

The Journal of Pediatrics
|August 1, 1991
PubMed
Summary

Alpers disease causes severe brain degeneration and rapid, fatal liver failure in children. This autosomal recessive condition presents with neurological symptoms and progressive liver damage, often leading to death within weeks of diagnosis.

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Area of Science:

  • Neurology
  • Hepatology
  • Genetics

Background:

  • Alpers disease is a rare, inherited neurological disorder characterized by progressive cerebral degeneration.
  • It often presents in early childhood with developmental delay, seizures, and neuromuscular decline.

Observation:

  • This study details the liver disease progression in five pediatric patients with Alpers disease.
  • Patients exhibited vomiting, hypotonia, seizures, and subsequently developed liver dysfunction, including hepatomegaly and abnormal liver function tests.
  • Liver failure was rapid, with patients surviving only weeks after diagnosis, succumbing to hepatic failure.

Findings:

  • Histological examination revealed progressive liver lesions, including microvesicular steatosis, inflammation, hepatocyte necrosis, and bile ductular proliferation.

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  • Autopsy confirmed massive hepatocyte dropout and severe liver damage, with characteristic neuronal degeneration in the brain.
  • Etiologic investigations for infectious and metabolic causes were negative, ruling out peroxisomal dysfunction.

    • Implications:

    • Alpers disease should be considered in pediatric cases of unexplained, rapidly progressive liver failure.
    • Early identification and understanding of the hepatic manifestations are crucial for patient management.
    • Further research is needed to elucidate the unknown genetic cause of this devastating autosomal recessive disorder.