Pediatr. praxi. 2017;18(1):56-58 | DOI: 10.36290/ped.2017.011

The rare case of boy with diagnosis LAL-D

MUDr. Lenka Ťoukálková

Dětské oddělení Krajské nemocnice T. Bati, a. s.

Rare storage disease LAL-D (lysosomal acid lipase-deficiency) is an autosomal recesive disorder. Formely it used to be named

Wolman´s disease or CESD (cholesteryl ester storage disease). These two formes differ only by the activity of the coded enzyme,

whose residual activity is responsible for the gravity of the symptoms and the time of their occurence. There was no effective

therapy antill recently. But this has changed and ERT (enzyme replacement therapy) with acid lipase is the new perspective.

Diagnostic markers are:

1. Dyslipidemia, high total cholesterol, high LDL cholesterol, low HDL cholesterol, triglycerides are not elevated in all the cases.

2. Hepatopathia, increased liver enzymes, hepatomegaly, steatosis, hepatofibrosis, or cirhosis of the unknow origin.

The case description shows that though the correct and quick diagnosis may be difficult it opens the way to the very effective

therapy of this progressive disease causing severe morbidity and premature mortality.

Keywords: LAL-D, CESD, acid lipase, storage disease, hypercholesterolemia

Published: April 4, 2017  Show citation