Fatma F Kamoun

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Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet, and loss of deep tendon reflexes. CMT4H is an autosomal recessive demyelinating subtype of CMT, due(More)
BACKGROUND The bacterial meningitis in children remains a worrisome affection both by its frequency and by its gravity. AIM describe the epidemiological, clinical and evolutionary data of bacterial meningitis in children aged between 3 months and 15 years. METHODS we conducted a retrospective study of all cases of bacterial meningitis collected in the(More)
Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an(More)
BACKGROUND primary distal renal tubular acidosis in children (RTA) is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen (H+) in the distal tubular. AIM To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. PATIENTS AND METHODS We conducted a retrospective study of all cases(More)
Care for a child with a disability is a stressful experience for parents. It triggers a range of emotions and feelings that require a set of behaviors and attitudes to manage daily life. To face this situation, parents use coping strategies. The purpose of this study was to assess the psychological reactions (depression and anxiety) of parents and the(More)
Apoptosis of skeletal muscle fibers is a well-known event occurring in patients suffering from muscular dystrophies. In this study, we hypothesized that functional polymorphisms in genes involved in the mitochondrial apoptotic pathway might modulate the apoptotic capacity underlying the muscle loss and contributing to intrafamilial and interfamilial(More)
We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. The diagnosis was made after her death from the(More)
Various treatment modalities are used to treat warts and this indicates that none is uniformly effective. Cimetidine, an H2-receptor antagonist, has been tried to treat warts because of its immunomodulatory effects. Sixty children with multiple and recalcitrant warts were included in a placebo-controlled, double-blind study. Patients were randomly allocated(More)
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune regulation. Here, we report on a fatal case of type 3 FHL (FHL3) in a 45-day-old boy. Clinically, the infant presented with fever and hepatosplenomegaly. Biology showed pancytopenia, elevated ferritin, and decreased fibrinogen. Images of hemophagocytosis were(More)