{"title":"Early-Onset Wolman Disease in an Infant with Novel Compound Heterozygous LIPA Variants.","authors":"Tingting Zhu, Yue Pu, Dongliu Wei, Tao Wang","doi":"10.7754/Clin.Lab.2025.250940","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.</p><p><strong>Methods: </strong>We report a 2-month-old female with abdominal distension, vomiting, hepatosplenomegaly, and bilateral adrenal calcification.</p><p><strong>Results: </strong>Laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia, and elevated liver enzymes. Genetic testing revealed novel compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg).</p><p><strong>Conclusions: </strong>This case expands the LIPA variant spectrum and emphasizes the importance of combining clinical data for early diagnosis and counseling.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2007-2011"},"PeriodicalIF":0.7000,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2025.250940","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.
Methods: We report a 2-month-old female with abdominal distension, vomiting, hepatosplenomegaly, and bilateral adrenal calcification.
Results: Laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia, and elevated liver enzymes. Genetic testing revealed novel compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg).
Conclusions: This case expands the LIPA variant spectrum and emphasizes the importance of combining clinical data for early diagnosis and counseling.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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