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Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin

Buket Dalgiç1, Sinan Sari, Mehmet Gündüz

  • 1Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics
|July 20, 2006
PubMed

Insights

Cholesteryl ester storage disease (CESD), a rare genetic disorder, was diagnosed in a two-year-old boy. Early simvastatin treatment showed positive results, marking the youngest reported case managed with this HMG CoA reductase inhibitor.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal acid lipase deficiency.
  • CESD typically presents with hepatomegaly and hyperlipidemia.

Observation:

  • A two-year-old boy presented with incidental hepatosplenomegaly, hyperlipidemia, and hypertransaminasemia.
  • Liver biopsy revealed an orange-yellow appearance, microvesicular steatosis, and birefringent crystals.

Findings:

  • Reduced human acid lipase activity in peripheral leukocytes confirmed the CESD diagnosis.
  • The patient was the youngest reported case treated with a 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor (simvastatin).

Implications:

  • Simvastatin therapy was well-tolerated and effective in this young CESD patient.
  • This case highlights the potential for early intervention with HMG CoA reductase inhibitors in CESD.
  • Further research into HMG CoA reductase inhibitor efficacy in pediatric CESD is warranted.

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