Publication: Wolman disease with a low cholesterol level: An unusual laboratory finding
Issued Date
2021-11-01
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ISSN
26300559
25869981
25869981
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2-s2.0-85115170035
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Health Science and Medical Research. Vol.39, No.6 (2021), 517-522
Suggested Citation
Phawin Kor-Anantakul, Thipwimol Tim-Aroon, Somchit Jaruratanasirikul Wolman disease with a low cholesterol level: An unusual laboratory finding. Journal of Health Science and Medical Research. Vol.39, No.6 (2021), 517-522. doi:10.31584/jhsmr.2021803 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/77731
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Title
Wolman disease with a low cholesterol level: An unusual laboratory finding
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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 low-density 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.