A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis. Issue 3 (April 2019)

• Record Type: Journal Article
• Authors: Tinsa, Faten; Ben Romdhane, Manel; Boudabous, Hela; Bel Hadj, Imen; Brini, Ines; Tebib, Neji; Louati, Hela; Bekri, Soumeya; Boussetta, Khadija
• Is Part Of: Journal of pediatric hematology/oncology. Volume 41:Issue 3(2019)
• Publication Date: 2019-04
• Subjects: Wolman disease -- hemophagocytic lymphohistiocytosis -- lysosomal storage disease -- LIPA gene; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001192
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation. Prenatal diagnosis has been carried out in the next pregnancy. To our knowledge, this mutation has never been reported before, and this is an unusual case of secondary hemophagocytic lymphohistiocytosis complicating Wolman disease.