Lamia Ben Mansour

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BACKGROUND 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. AIM To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. METHODS This is a(More)
Acute Parvovirus B19 infection is responsible for blocking the erythroblastic line, usually with no consequences on hematopoiesis except in patients with chronic hemolytic anemia in whom it can evolve to potentially serious acute anemia. We report 2 observations of acute erythroblastopenia revealing hereditary spherocytosis in 2 children (1 boy and 1 girl)(More)
The association of cholelithiasis and portal cavernoma is rarely described in adult or pediatric patients. We report 2 cases of gallstone associated with portal cavernoma in 2 girls. The first one suffered from Evans syndrome associated with congenital immune deficiency. The portal cavernoma was discovered with gallstone after splenectomy indicated because(More)
Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms. We report a particular case of Aicardi syndrome characterized by the association of the classical triad of severe bilateral ptosis, pontocerebellar hypoplasia, and perisylvian polymicrogyria in a girl born(More)
BACKGROUND The syndrome of Bardet-Biedl is definite clinically by the association of obesity, polydactyly, pigmentary retinopathy, hypogonadism and backwardness. AIM To study the epidemiologic, clinical, biological, genetic, therapeutic and evolutionary characteristic of our patients. METHODS We carried out a retrospective study concerning 11(More)
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