A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
10.5223/pghn.2017.20.4.263
- Author:
Kwang Yeon KIM
1
;
Ju Whi KIM
;
Kyung Jae LEE
;
Eunhyang PARK
;
Gyeong Hoon KANG
;
Young Hun CHOI
;
Woo Sun KIM
;
Jung Min KO
;
Jin Soo MOON
;
Jae Sung KO
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. kojs@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Lysosomal acid lipase deficiency;
Glycogen storage disease;
Lysosomes;
Hepatomegaly;
Dyslipidemias
- MeSH:
Biopsy;
Child*;
Cholesterol;
Diagnosis, Differential;
Dyslipidemias;
Enzyme Replacement Therapy;
Fibrosis;
Glycogen Storage Disease;
Hepatocytes;
Hepatomegaly;
Humans;
Liver;
Lysosomes;
Macrophages;
Male;
Sterol Esterase*
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2017;20(4):263-267
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
