Online Articles: Clinical and Laboratory ObservationsA Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic LymphohistiocytosisTinsa, Faten*,†,‡; Ben Romdhane, Manel MD*,†; Boudabous, Hela MD†,§; Bel Hadj, Imen MD*,†; Brini, Ines MD*; Tebib, Neji MD†,§; Louati, Hela MD†,∥; Bekri, Soumeya MD, PhD¶; Boussetta, Khadija MD*,† Author Information Departments of *Pediatrics B ∥Pediatric Radiology, Children’s Hospital Bechir Hamza, Bab Saadoun ‡Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institut of Tunis, University of Tunis El Manar §Paediatric Department, La Rabta Hospital, Jbal Lakhdar, Jebbari †University of Medicine, Tunis El Manar, Tunis, Tunisia ¶Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France The authors declare no conflict of interest. Reprints: Faten Tinsa, Department of Pediatrics, Children’s Hospital, Tunis 1007, Tunisia (e-mail: [email protected]). Journal of Pediatric Hematology/Oncology: April 2019 - Volume 41 - Issue 3 - p e193-e196 doi: 10.1097/MPH.0000000000001192 Buy Metrics 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. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.