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Two Cases of Wolman's in Siblings

Journal of the Korean Pediatric Society 1998;41(4):529-537.
Published online April 15, 1998.
Two Cases of Wolman's in Siblings
Joon Sung Kim1, Tai Huyng Cho1, Hoon Kook1, Seung Hee Choi1, Young Youn Choi1, Chang Soo Park2, Heoung Keun Kang1, Dong Kyu Jin3, Tai Ju 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
남매에서 발생한 Wolman's Disease 2례
김준성1, 조태형1, 국훈1, 최승희1, 최영륜1, 박창수2, 강형근1, 진동규3, 황태주1
1전남대학교 의과대학 소아과학교실
2전남대학교 의과대학 병리학교실
3성균관대학교 의과대학 소아과학교실
Correspondence: 
Joon Sung 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
Key Words: Wolman' disease, Lysosomal acid deficiency, Bilateral adrenal calcification


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