[Type I Crigler Najjar syndrome in Tunisia; a study of 30 cases]

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate [UDP] glucuronosyltransferase activity in the liver. To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. This is a retrospective report of Crigler Najjar cases who were hospitalized in pediatric department of Hedi Chaker hospital during 21 years [from 1st January to 31 December 2006]. Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males [sex ratio = 2]. The mean age of our patients was 41 days [4 days - 9 months]. All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus. Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage [bilirubin encephalopathy] and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country

[Epidemiological, etiological and evolutionary aspects of children cirrhosis in a develping country: Experience of the pediatric department of SFAX University hospital, Tunisia]

Cirrhosis is rare in pediatrics. The children cirrhosis is particular by the ascendancy of biliairy cirrhosis and cirrhosis due to an innate error of metabolism and by the relative frequency of the cases where an etiological treatment is possible. However in developing countries, the children cirrhosis still put problems of etiological diagnosis and of therapeutic coverage. To study epidemiological and etiological particularities, therapeutic modalities and outcome of cirrhosis in the sooth of Tunisia. We led a retrospective study over 15 years [1990-2004] having allowed to depict 71 cirrhotic children followed in the service of general pediatric department of SFAX University hospital [Tunisia]. Our patients divide up into 36 girls and 35 boys. The age of revelation of the disease was variable [15 days to 15 years]. Jaundice and hepatomegaly were the most two clinical signs frequently found in the clinical exam. On the etiological plan, biliairy cirrhosis [Extra hepatic biliary atresia, dilatation of choledocal cyst, progressive familial intrahepatic cholestasis...] were the most frequent [40%] followed by metabolic cirrhosis[tyrosinemia type I, Wilson disease...] [17%] and post-hepatitic cirrhosis [17%]. In 27%of cases, no etiology was found. Besides the symptomatic treatment, an etiological treatment was tempted in some cases. No patient benefited from hepatic transplantation. The follow-op of the children cirrhosis was grave becaose 30 children [42%] died, 19 children are lost-sight and 22 children [31%] are still alive. The children cirrhosis pose still in our country of the problem of etiological diagnosis because of the not availability of some specific additional exams and especially problems of coverage for lack of a program of hepatic transplantation

syndrome neprotique idiopathique corticoresistant de l'enfant. Etude de 14 observations

Cortico-resistent nephrosis represent 10% of idiopathic nephrosis in nephrosis in children and progresses in almost half of the cases to end-stage renal failure. 14 cases of cortico-resistant idiopathic nephrotic syndrome, collected over a period of 13 years [1990 - 2002], are reported. This study involved 10 boys and 4 girls, aged 8 years on average. A history of allergy was present in two cases. Two other children had a family history of cortico-resistant nephrosis [CRN]. Consanguinity was found in 6 patients. The diagnosis of cortico-resistant idiopathic nephrotic syndrome [CRINS] was suggested by oedema in all cases. Two patients had a transitory high blood pressure and 5 others had a macroscopic hematuria associated with oedema. Laboratory studies confirmed the diagnosis of nephrotic syndrome, which was severe in 10 cases, and revealed a transitory renal insufficiency in 5 cases, a hyperlipidemia in 3 cases and signs of hyperaldosteronism in 12 cases. Renal biopsy practised in all patients shaved small glomerular lesions in 6 cases, a focal and segmental hyalinosis in 8 cases, one of which was associated with chronic tubulo-interstitial lesions. Treatment was based on alkylanting agents in 11 cases [cyclophosphamide in 6 cases and chlorambucil in 5 cases] and cyclosparine in 6 cases. 4 years later on average, the course was marked by complete remission in one case, relapse of the nephrotic syndrome in 3 cases, persistant CRINS without end-stage renal failure in 4 cases and progression to end-stage renal failure in 4 cases