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Niemann-Pick disease associated with liver disorders
Acta Pathologica Japonica
|September 1, 1985
Summary
Niemann-Pick disease (NPD) in an infant presented with liver issues including giant cell transformation and adenomata. Sphingomyelin accumulation and alpha-1-antitrypsin globules were noted in the liver.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Lysosomal Storage Diseases
Background:
- Niemann-Pick disease (NPD) is a rare lysosomal storage disorder.
- It involves sphingomyelin accumulation in the reticuloendothelial system (RES).
- Hepatocellular giant cell transformation (GCT) can occur in infants.
Observation:
- A 19-month-old girl with suspected NPD presented with GCT at 3 months.
- Liver biopsy at 19 months revealed cirrhosis and multiple hepatocellular adenomata.
- Accumulation of alpha-1-antitrypsin (A-1-AT) globules was observed in adenoma cells.
Findings:
- The patient exhibited sphingomyelin accumulation in the RES.
- Cirrhosis and hepatocellular adenomata were confirmed in the liver.
- Cytoplasmic A-1-AT globules, likely locally synthesized, were present in adenomata.
- Elevated serum alpha-1-antitrypsin (A-1-AT) and alpha-fetoprotein (AFP) were detected.
Implications:
- This case highlights a complex presentation of NPD.
- It suggests a potential link between NPD, GCT, and hepatocellular adenomata.
- Further research may clarify the pathogenesis of A-1-AT accumulation in this context.