Phawin Kor-AnantakulThipwimol Tim-AroonSomchit JaruratanasirikulRamathibodi HospitalFaculty of Medicine, Prince of Songkia University2022-08-042022-08-042021-11-01Journal of Health Science and Medical Research. Vol.39, No.6 (2021), 517-52226300559258699812-s2.0-85115170035https://repository.li.mahidol.ac.th/handle/123456789/77731Wolman 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.Mahidol UniversityMedicineNoteSCOPUS10.31584/jhsmr.2021803