title: [Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].
abstract: BACKGROUND
  Gaucher disease (GD) is a sphingolipidosis with heterogeneous phenotypic expression. The vital and / or functional prognosis may be threatened by an early visceral severe involvement in type 1 or a neurological degeneration in the more rarest neuroneupathic forms. The phenotypic and genotypic data regarding Gaucher disease are poorly known in Maghrebian countries; they are even less for pediatric forms. THE AIM of the study is to highlight the specific phenotypic and genotypic changing among the widest Gaucher pediatric cohort in the Tunisian population.
  
  
  METHODS
  a restrospective study of a sample oh children in voluved by gaucher disease.
  
  
  RESULTS
  Twenty one cases of GD were identified, divided into 13 cases with type 1, 5 with type 3 and 3 children with acute neurological form. The first symptoms occurred before 1 year age in one third of patients with type IGD. The clinical phenotype was severe according to the high severity score index and proportion of growth retardation. Portal hypertension was found in 8 patients. Three type 3 GD patients died before occurrence of the neurological signs. The phenotype was intermediate between the classic type 2 GD and its perinatal lethal variant. Three patients were treated with enzyme replacement therapy and 4 others had allogenic bone marrow transplantation with a favorable outcome. Three mutations dominate the genotypic spectrum of GD in this cohort. Additionally to the N370 mutation, L444P and RecNciI mutations seem to occur more frequently compared to the GD forms presenting in adulthood.
  
  
  CONCLUSIONS
  This data confirm the particular severity of Gaucher disease manifesting in childhood. This was enhanced through the high frequency of severe mutations. Further studies on largest cohort are needed to more clarify the phenotypic and genotypic features of Gaucher disease in Tunisia.
authors.affiliation: UR 25/04, Service de Pédiatrie, Hôpital La Rabta, Tunis.
authors.forename: Hadhami
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: Imène
authors.initials: I
authors.lastname: Riahi
authors.forename: Hatem
authors.initials: H
authors.lastname: Azzouz
authors.forename: Saloua
authors.initials: S
authors.lastname: Ladab
authors.forename: Wafa
authors.initials: W
authors.lastname: Cherif
authors.forename: Amal
authors.initials: A
authors.lastname: Ben Chehida
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Abdelmoula
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: Jalel
authors.initials: J
authors.lastname: Chemli
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Néji
authors.initials: N
authors.lastname: Tebib
authors.forename: Marie F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005776:Gaucher Disease / Q000235:genetics* / Q000628:therapy; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D014416:Tunisia