A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.
J Pediatr Hematol Oncol
; 41(3): e193-e196, 2019 Apr.
Article
in En
| MEDLINE
| ID: mdl-29702543
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Wolman Disease
/
Lymphohistiocytosis, Hemophagocytic
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Infant
Country/Region as subject:
Africa
Language:
En
Journal:
J Pediatr Hematol Oncol
Journal subject:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Year:
2019
Document type:
Article