Cholesterinesterspeicherkrankheit als Ursache einer Hepatomegalie im Kindesalter

Case report.

We present a 9,5-years-old boy who suffered from hepatomegaly with concomitant increase of liver enzymes (ALAT, ASAT, γGT), abdominal pain, and hypercholesterolemia since the age of 2. After years of extensive examinations in several children's hospitals and a total of five liver biopsies, a tentative diagnosis of cholesteryl ester storage disease (CESD) was made at the age of 7. Low enzymatic activity of human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) in the patient´s leukocytes confirmed the diagnosis.

Genetics.

To characterize the underlying mutations, the ten exons of the hLAL gene were amplified by the polymerase chain reaction and sequenced. The boy was found to be a compound heterozygote for two genetic defects, a Gly₂₄₅→Stop mutation in exon 7 and a Gly₂₉₀→Arg substitution encoded by exon 9.

Discussion.

Especially in young patients with hepatomegaly, CESD is a rare, but important differential diagnosis.