[Cystic fibrosis: A report of 33 pediatric Tunisian cases].

Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients.

Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients.

Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed.

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.

Objectives: Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence.

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.

Unlabelled: Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation.

Aim Of The Study: consanguinity rates have been determined among 14 families with mucopolysaccharidosis type I, seen in the pediatric departments of different geographic areas of Tunisia (Central and Southern areas) for the period August 2004 - August 2011 in order to investigate the relation between consanguinity and this disorder.

Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.

Background And Objective: Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal screening program is not established yet, the management of PKU handicap is not properly carried out. The aim of this study was to estimate the frequency of the PKU diagnosed following clinical features anomalies, to provide information about the untreated PKU patients profile in Tunisia not covered by neonatal screening.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Background: Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.

[Rosai -Dorfman disease: a two cases report].

Background: Rosai-Dorfman disease (RDD) is a benign lymphoproliferatif disorder characterized by cervical lymphadenopathies with a consistent risk of airways' compression and esthetical prejudice. Extra nodal localizations are also described.

Aim: To report two pediatric cases of RDD.

[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.

Pediatric systemic lupus erythematosus with C1q deficiency.

Hereditary deficiency of each component of the classical pathway is associated with increased susceptibility to lupus erythematosus (LE). Both the severity of the disease and the strength of this association are greatest for homozygous C1q deficiency, which is extremely rare. In fact, more than 90% of all individuals with deficiency of this component have LE.

[Pulmonary aspergillosis in a child with chronic granulomatous disease].

The chronic granulomatous disease is characterised by the occurence of multiple bacterial and fungal infections since the early childhood. This susceptibility to infections must be prevented by a primary prophlylaxis against the opportunistic germs like pneumocystis and aspergillus. Our case is about a twelve-year-old boy who had a prophylaxis since his fourth month of life.

[Visceral leishmaniasis in children: prognostic factors].

The morbidity and death rate of visceral leishmaniasis (VL) is important. The aim of our study is to find prognosis factors of VL. Two hundred and thirty two children with VL were retrospectively studied.

[Immunological study in sickle cell disease patients: importance of the complement system].

Ten Tunisian patients, with homozygote sickle cell disease and asplenia were studied to investigate and to determine possible immunological function defects. Obtained results directed us to an abnormality of the alternate complement pathway activation which is expressed by a decreased hémolytic activity, while the classic pathway is normal. Quantification of C3, C4, C5, C6, C7 and factor B by immunochemical assay were normal, whereas factor B functional activity was depressed to a mean level of about half of normal in eight patients, IgG was increased in one subject and IgA in two others.

[Bronchopulmonary aspergillosis: study of 17 cases].

Aspergillosis is a fungic infection depending on the local or general physiologic and immunologic state of the host. We report the result of retrospective five year study (1995-1999) about 17 cases in the laboratory of Parasitology-Mycology of Rabta hospital in Tunis. Six aspergillomas were observed, they occurred after a pulmonary tuberculosis, two cases of allergic broncho-pulmonary aspergillosis described in two asthmatic patients, nine cases of invasive pulmonary aspergillosis complicating two cancers, one leukaemia, six chronic granulomatous disease.