| Title : A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis - Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| Author(s) : Tinsa F , Ben Romdhane M , Boudabous H , Bel Hadj I , Brini I , Tebib N , Louati H , Bekri S , Boussetta K |
| Ref : J Pediatr Hematol Oncol , 41 :e193 , 2019 |
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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. |
| PubMedSearch : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedID: 29702543 |
| Gene_locus related to this paper: human-LIPA |
| Mutation | Y51X_human-LIPA |
| Gene_locus | human-LIPA |
| Disease | Wolman disease WD, Cholesterol Ester Storage Disease, CESD |
Tinsa F, Ben Romdhane M, Boudabous H, Bel Hadj I, Brini I, Tebib N, Louati H, Bekri S, Boussetta K (2019)
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
J Pediatr Hematol Oncol
41 :e193
Tinsa F, Ben Romdhane M, Boudabous H, Bel Hadj I, Brini I, Tebib N, Louati H, Bekri S, Boussetta K (2019)
J Pediatr Hematol Oncol
41 :e193