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KMID : 1038820170200040263
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Pediatric Gastroenterology, Hepatology & Nutrition
2017 Volume.20 No. 4 p.263 ~ p.267
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A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
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Kim Kwang-Yeon
Kim Ju-Whi
Lee Kyung-Jae
Park Eun-Hyang
Kang Gyeong-Hoon
Choi Young-Hun
Kim Woo-Sun
Ko Jung-Min
Moon Jin-Soo
Ko Jae-Sung
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Abstract
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Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient’s elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.
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KEYWORD
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Lysosomal acid lipase deficiency, Glycogen storage disease, Lysosomes, Hepatomegaly, Dyslipidemias
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