[A novel mutation in PEX 26 gene in Zellweger syndrome: a case report].

Background: Zellweger syndrome is the most severe phenotype of the peroxisome biogenesis disorders caused by mutations in PEX genes. PEX 1, 6 and 26 genes are most frequently implicated. Clinical phenotype can't predict the mutated gene.

[Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].

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.

Incidence of mucopolysaccharidoses in Tunisia.

Background: The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders.

Aim: To evaluate the epidemiological profile of MPS in Tunisia.

Methods: we conducted a retrospective epidemiological survey covering the period 1970-2005.

[Enzyme replacement therapy for Gaucher paediatric disease: the only Tunisian experience].

Aim: We report through the first Tunisian experience with enzyme replacement therapy, the goals and consensus recommendations for treatment and monitoring of paediatric non neuronopathic Gaucher disease.

Methods: Three children with Gaucher disease undergone enzyme replacement therapy with Cerezyme for severe visceral and/or bone involvement. Visceral, hematologic, bone, and growth parameters were assessed initially and under treatment.