Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin.
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.
Dalgiç
Buket
B
Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.
Sari
Sinan
S
Gündüz
Mehmet
M
Ezgü
Fatih
F
Tümer
Leyla
L
Hasanoğlu
Alev
A
Akyol
Gülen
G
D001706:Biopsy; D002675:Child, Preschool; D015217:Cholesterol Ester Storage Disease / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology; D006529:Hepatomegaly / Q000209:etiology* / Q000473:pathology; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D008297:Male; D019821:Simvastatin / Q000627:therapeutic use*
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D019821:Simvastatin