Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding

Authors

  • Phawin Kor-anantakul Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand.
  • Thipwimol Tim-Aroon Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Ratchatewi, Bangkok 10400, Thailand.
  • Somchit Jaruratanasirikul 1Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand.

DOI:

https://doi.org/10.31584/jhsmr.2021803

Keywords:

LIPA gene, lysosomal acid lipase deficiency, Wolman disease

Abstract

Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile of high levels of total cholesterol (TC), triglycerides and lowdensity lipoprotein cholesterol (LDL-C), but a low level of high-density lipoprotein cholesterol (HDL-C). We report a 1-month-old boy with Wolman disease who had hepatosplenomegaly but with an atypical abnormal lipid profile of low TC level, and very low levels of both LDL-C and HDL-C. The genetic study revealed a compound heterozygous mutation of the LIPA gene, leading to the confirmed diagnosis of Wolman disease.

References

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Published

2022-03-15

How to Cite

1.
Kor-anantakul P, Tim-Aroon T, Jaruratanasirikul S. Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding. J Health Sci Med Res [Internet]. 2022 Mar. 15 [cited 2024 Mar. 29];39(6):517-22. Available from: https://he01.tci-thaijo.org/index.php/jhsmr/article/view/255323

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Section

Case Report