Pediatr Gastroenterol Hepatol Nutr.  2017 Dec;20(4):263-267. 10.5223/pghn.2017.20.4.263.

A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency

• Kim KY
• Kim JW
• Lee KJ
• Park E
• Kang GH
• Choi YH
• Kim WS
• Ko JM
• Moon JS
• Ko JS

• KMID: 2398909
• DOI: http://doi.org/10.5223/pghn.2017.20.4.263

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.

Keyword

Lysosomal acid lipase deficiency; Glycogen storage disease; Lysosomes; Hepatomegaly; Dyslipidemias

MeSH Terms

Biopsy
Child*
Cholesterol
Diagnosis, Differential
Dyslipidemias
Enzyme Replacement Therapy
Fibrosis
Glycogen Storage Disease
Hepatocytes
Hepatomegaly
Humans
Liver
Lysosomes
Macrophages
Male
Sterol Esterase*
Cholesterol
Sterol Esterase

Figure

• 

  Fig. 1 Light microscopy examination of the liver biopsy tissue showed (A) diffuse microvesicular fatty changes in hepatocytes (H&E, ×200) and (B) septal fibrosis (Masson-trichrome, ×40).

• 

  Fig. 2 Electron microscopy examination of the liver tissue revealed macrophages with numerous lipid-filled lysosomes at the portal area and hepatocytes that contained many large glycogen particles and cholesterol clefts (×400).

• 

  Fig. 3 Direct sequencing of the LIPA gene. A novel homozygous mutation, c530C>T(p.Thr177Ile), was identified.

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