[Liver involvement in Gaucher's disease: a tunisian cohort study]

Gaucher disease is a sphingolipidosis related to glucocerebroside storage in reticuloendothelial cells leading to multisystemic disease. Liver involvement is frequent but clinical expression is rare. The aim of this study is to evaluate liver involvement among a cohort of 45 patients with type 1 Gaucher disease. Hepatomegaly often mild to moderate was seen in 86 per cent of cases. A correlation was noted between hepatic involvement, spleen enlargement and severity index score. Portal hypertension was documented in 20 per cent of cases and seemed to be primitive. Four children had cirrhosis and two a hepatopulmonary syndrome. Splenectomised patient didn't show worsening of liver involvement. Liver complications were more frequent in pediatric patients comparatively to adult patients in this cohort

[Phenotypic spectrum of zellweger syndrome about three cases]

Peroxisome biogenesis disorders associate the spectrum of Zellweger syndrome and Rhizomelic chondrodysplasy. We have studied two cases of Zellweger syndrome and a case of neonatal adrenoleucodystrohpy. Clinical picture consisted with neonatal hypotonia with seizures in all cases, facial dysmorphia in two cases and a punctata chondrodysplasia in one case. Deafness and blindness were found in two cases. Cerebral tomography revealed white matter hypodensities in all cases. The diagnosis of Zellweger syndrome was enhanced by high level of plasmatic very-long-chain fatty acids and deficiency of DHAP-AT activity and b oxidation of C26:0 in fibroblasts. Ultrastructural studies showed peroxisomal ghosts in one patient. Genetic analysis detected a punctual mutation on PEX 26 gene. The prognosis was poor with the death of the two Zellweger at the age of 9 month with resistant seizures, and at the age of 4 years for the ALD. The prenatal diagnosis was performed in one family

Phenotype and mutational spectrum in Tunisian pediatric Gaucher disease

Gaucher disease [GD] is a sphingolipidosis with heterogeneous phenotypic expression. The vital and/or functional prognosis maybe threatened by an early visceral severe inolvement 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 study is to highlight the specific phenotypic and genotypic changing among the widest Gaucher pediatric cohort in the Tunisian population. A restrospective study of a sample of children involved by gaucher disease. 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 1GD. 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 2GD 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 RecNcil mutations seem to occur more frequently compared to the GD forms presenting in adulthood. 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

[Singular etiology of inherited aplastlc anemia: a case report of congenital dyskeratosis]

Congenital Dyskeratosis [CD] is a severe inherited disease characterised by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. Other clinical manifestations including lung fibrosis and liver cirrhosis worsen the prognosis. Bone marrow hypoplasia is frequently reported, 50 per cent of patients develop pancytopenia before the age of 10 years. We report here the first Tunisian case of DC diagnosed in paediatric age and revealed by a severe bone marrow failure by the age of ten years. The classic triad appeared in the first decade, epiphora, blepharitis, teeth abnormalities and a single kidney were also noted. Androgen therapy stabilised peripheral cytopenia and, decreased the need of red blood cell transfusion

[Incidence of mucopolysaccharidoses in Tunisia]

The mucopolysaccharidoses [MPS] are a devastating heterogenous group of lysosomal storage disorders. To evaluate the epidemiological profile of MPS in Tunisia Methods we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients. Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases. 20%were from multiplex families. Consanguinity was found in 83%of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100.000 live births, respectively. The cumulative incidence of MPS type VI [0.3 per 105 live births] was higher than reported in European countries; but, it is likely that. The reported frequency of all types of MPS in Tunisia is underestimated

[Enzyme replacement therapy for gaucher pardiatric disease: the only Tunisian Experience]

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. 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. Two children presented with severe visceral or hematologic picture. One patient had myocardiopathy and primitive portal hypertension and another was diagnosed with cirrhosis related to Gaucher disease. Recurrent avascular necrosis and osteoporosis have justified treatment in another child. All patients received an initial dose of 60U/Kg/2 weeks. We have seen a gradual disappearance of hepatosplenomegaly and a rapid normalisation of hematological parameters in two patients. A resistance to treatment indicated splenectomy in one patient. The improvement in bone mineral density was slower. A significant growth gain was observed in patients with growth retardation. No patient had developed Cerezyme antibodies. Despite its effectiveness and safety demonstrated in these children, enzyme replacement therapy remains inaccessible because of its cost for emerging countries. The allogeneic bone marrow is an alternative therapy to encourage and to propose precociously for severe paediatric forms of Gaucher disease

[Clear cell sarcoma [malignant melanoma] of soft parts: report of a case]

Clear cell sarcoma [or malignant melanoma] of soft parts is a rare malignancy that is found in the young adults and is generally located in the extremities of the limbs. In this study, we report a new case diagnosed in a 23-year old male revealed by a slowly enlarging mass of the knee. The histopathologic pattern of the mass was composed of nests and stands of fusiform or round cells alternating with bands of sclerotic stroma. The tumoral cells presented abundant, eosinophilic and sometimes clear cytoplasm. Some cells contain brown pigment which is Fontana [+]. Vimentin, S100 protein and HMbeta45 antibodies were expressed by the tumoral cells confirming the diagnosis of soft tissue clear cell sarcoma. Large surgical resection was performed with no recurrence eight months after