All issues > Volume 41(4); 1998

Case Report

J Korean Pediatr Soc. 1998;41(4):529-537. Published online April 15, 1998.

Two Cases of Wolman's in Siblings

Joon Sung JS Kim¹, Tai Huyng TH Cho¹, Hoon H Kook¹, Seung Hee SH Choi¹, Young Youn YY Choi¹, Chang Soo CS Park², Heoung Keun HK Kang¹, Dong Kyu DK Jin³, Tai Ju TJ Hwang¹

¹Department of Pediatrics, Chonnam University Medical School, Kwangju, Korea
²Department of Pathology, Chonnam University Medical School, Kwangju, Korea
³Department of Pediatrics, Samsung Medical Center, Seoul, Korea

Correspondence Joon Sung JS Kim ,Tel: +82.62-220-6646, Fax: +82.62-222-6103, 

Abstract

Wolman' disease is a rare autosomal recessive disorder in which a deficiency of lysosomal acid lipase leads to the accumulation of cholesteryl esters and trigycerides in most of the body tissues. Clinically, it is characterized by abdominal distention, hepatosplenomegaly, vomiting, intractable diarrgeam steatorrhea, malabsorption, inanitionm failure to thrive, and bilateral enlargement and calcification of the adrenal glands demonstrated by roentgenographic examination. Diagnosis of Wolman' disease is made by typical clinical presentationm classic adrenal calcification, and the demonstration of abnormal accumulation of cholesteryl esters and trigycerides in biopsy tissue, such as liver. The definitite diagnosis in made by the demonstration of lysosomal acid lipase deficiency in leukocyted and cultured fibroblasts. There is no specific treatment for Wolman' disease. The prognosis is very poor, and death usually occurs within the first 6 months. We report hereby the first two Korean cases of Wolman' disease in young sibling infants who had characteristic symptoms of abdominal distentionm hepatosplenomegaly, vomiting, intractable diarrhea, and failure to thrive. The diagnosis was made by clinical, pathological, radiological findings, and demonstration of lysosomal acid lipase deficiency. Supportive treatment including restriction of cholesterol and lovastin failed to prevent disease profression, resulting in fatal outcomes within 3 months of age. Bridf review of literatures ensues with the case

Keywords :Wolman' disease, Lysosomal acid deficiency, Bilateral adrenal calcification