The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 5
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
Berrak Bilginer Gürbüz 1 ,İlker Güney 2 ,Fatma Derya Bulut 1 ,Okan Dilek 3
1 Divisions of Pediatric Metabolism, Adana City Education and Training Hospital, Adana, Turkey
2 Divisions ofMedical Genetics, Adana City Education and Training Hospital, Adana, Turkey
3 Divisions of Radiology, Adana City Education and Training Hospital, Adana, Turkey
DOI : 10.24953/turkjped.2020.05.016 Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA).

Case. A 14-year-old female patient was diagnosed as LAL-D with the findings of hepatomegaly, splenomegaly, elevated liver enzyme levels, and abnormal lipid profile. Her sister had similar laboratory and ultrasonographic findings. Both siblings had a homozygous c.894 G>A mutation in the LIPA gene, and their parents were heterozygous for this mutation.

Conclusions. This case is one of the similar reports in the literature regarding clinical, biochemical, and genetic findings. It is well-known that LAL-D has overlapping clinical manifestations, and early diagnosis is quite challenging. Therefore, most patients die in the first year of life. After the determination of novel mutations in LAL-D patients, it is thought that LAL-D can present with heterogeneous signs and symptoms. Keywords : Lysosomal acid lipase (LAL), Lysosomal acid lipase deficiency (LALD), cholesterol ester storage disease (CESD)

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