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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.
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.
Abstract:
A 12-week-old female infant died from acute encephalopathy mimicking Reye syndrome. Because of positive serum hepatitis B surface antigen (HBs Ag) and perivascular inflammatory cell infiltration in the liver, she was diagnosed as having acute hepatitis. The most striking finding in the present case was extremely excessive lipid accumulation in the striated muscles including biceps brachii, tongue and cardiac muscles. The levels of serum, liver and muscle carnitine were within normal limits, though liver carnitine palmityl transferase (CPT) was markedly decreased in activity. Although the primary metabolic defect has yet to be elucidated, it is assumed that the fulminant hepatic failure induced lipid accumulation in the skeletal muscle by a certain abnormal lipid metabolism.