Choleteryl ester storage disease: A rare cause of adrenal calcifications in children

Abstract

Cholesteryl ester storage disease (CESD) in children is a rare anatomo-clinical entity, characterized by a secondary lysosomal accumulation and an autosomal recessive mutation in the LIPA gene, which results from a lysosomal acid lipase (LAL) deficiency. The work of this paper is based on our observation of a 25-month-old infant, who had an abdominal distension with a hepatomegaly of 13 cm. The abdomen X-ray has shown some bilateral adrenal calcifications. The results of the biological assessment : the hepatic check showed a slight cytolysis, triglycerides increased to 5.4 g.l with a reduced rate of high density lipoproteins. The blood smear has shown the presence of intracytoplasmic lipid vacuoles in the lymphocytes, with a positive MGG staining and a negative PAS staining. The activity of the LAL enzyme has decreased to 3.6%. This observation joins the rare pediatric cases of the CESD and highlights the interest in a simply available radiological examination to make a guidance diagnosis of a complex metabolic disorder.

Keywords

• abdominal x-ray
• cholesterol ester storage disease
• lysosomal acid lipase