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

Dalgic B., Sari S., Gunduz M., Ezgu F. S., Tumer L., Hasanoglu A., ...Daha Fazla

The Turkish journal of pediatrics, cilt.48, sa.2, ss.148-51, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 2
  • Basım Tarihi: 2006
  • Dergi Adı: The Turkish journal of pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.148-51
  • Anahtar Kelimeler: cholesteryl ester storage disease, 3-hydroxy 3-methyl glutaryl CoA reductase inhibitors, lysosomal acid lipase, LYSOSOMAL ACID LIPASE, LIVER-TRANSPLANTATION, LOVASTATIN
  • Gazi Üniversitesi Adresli: Evet

Özet

Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. This paper reports a two-year-old boy who had hepatosplenomegaly, hyperlipidemia and hypertransaminasemia determined incidentally. The liver biopsy sample was orange-yellow in appearance. Microscopically, microvesicular steatosis and birefringent crystals were seen in liver biopsy. The diagnosis of CESD was confirmed by the reduced human acid lipase activity in peripheral leukocytes. Simvastatin therapy was given and tolerated without side effects. Our patient is the youngest reported case in the literature treated with 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor.