{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T17:31:16Z","timestamp":1744392676530},"reference-count":8,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein, we present a case of Wolman disease presenting as hepatosplenomegaly in an infant. This case details important learning points to help distinguish the diagnosis of Wolman disease from other conditions with overlapping clinical features, such as hemophagocytic lymphohistiocytosis (HLH). The advent of enzyme replacement therapy has dramatically changed the natural history of Wolman disease, and this child showed remarkable improvement with treatment. This child was later found to have extensive adenopathy with retroperitoneal lymph node biopsy demonstrating diffuse infiltration by lipid\u2010laden macrophages, fatty deposits, cholesterol crystals, and calcifications. Similar to the collection of characteristic cells in other lysosomal storage disorders, we postulate that this is characteristic of underlying Wolman disease. We conclude with a summary of learning points from this presentation on infantile hepatosplenomegaly, pertinent to the geneticist, pediatrician, and pediatric subspecialists.<\/jats:p>","DOI":"10.1002\/ajmg.a.62923","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T11:15:13Z","timestamp":1660648513000},"page":"3364-3368","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly"],"prefix":"10.1002","volume":"188","author":[{"given":"William B.","family":"Hannah","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Ryan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\u2010Oncology, Department of Pediatrics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Surekha","family":"Pendyal","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. 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