[Pediatric Crohn's disease in Tunisia]

Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics.To study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children. Retrospective multicenter study conducted in 10 pediatric departments on a period of 10 years [2000-2008]. 43 children were included. The sex-ratio was 1.68. The mean age at the onset of the symptoms was 11 +/- 2.3 years [5-16 years]. The age of onset was inferior to 10 years in 25% of the children. The delay before management was superior to 1 year in 25% of cases. The initial symptoms were dominated by diarrhea [95%]. Perineal manifestations were present at diagnosis in 30% of children and extra-digestive manifestations in 53%. Ileocolonic localization was the most frequent [46%]. The initial disease flare was moderate in 83% of cases. The treatment was medical in 77% of cases, nutritional and medical in 18.5%. Maintenance therapy was instituted in 86% of cases and consisted essentiallay in azathioprin [62%]. The mean follow-up was 3 years and 4 months. 60% of the children had at least one acute flare. During evolution, 7% of children had anoperineal surgery and 11% an intestinal resection. Crohn's disease seems rare in Tunisia. The time of diagnosis is often delayed. The management is based on immunosuppressive therapy and nutritional support

novel mutation in infant hypophophatasia: a case report

Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified. The authors describe a Tunisian case having a mutation that has not been described up to now. It is about an infant, in the antecedents of recurring disease of the lungs in child since the age of seven months, which presents clinical and radiological signs of rickets. The diagnosis of hypophos-phatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study. The child is homozygous for a new mutation L282P in the ninth exon of the gene. The parents and two brother and sister are heterozygous for the same mutation

[Leukocyte adhesion deficiency about anew Tunisian case]

Leukocyte adhesion deficiency [LAD] is a rare primary immunedeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins. A family history of a boy who died from omphalitis and sepsis was reported. Our patient had the severe form, she had delayed umbilical cord separation and suffered recurrent infections. She had a deletion of the G at position 1497. The patient received a bone marrow transplantation from her mother HLA identical at age of 14 months. She is now 9 years old and in a good health

Leucoencephalite aigue du nourrisson traitee par fortes doses de corticoids

The authors report a case of acute post infectious leukoencephalitis observed in a two-years and a half child admitted to our hospital for fever with sudden condition deterioration, obnibulation, coma and paralysis of the 6th and 7th cranial nerve. Cerebrospinal fluid study showed lymphocytosis with negative culture. Head magnetic resonance imaging demonstrated diffuse high signals over the white matter on T2 weighted images so the diagnosis was confirmed. High dose corticosteroid therapy was effective

[Pulmonary alveolar proteinosis in two siblings. A case report]

Pulmonary alveolar proteinosis [PAP] is a rare disorder in children. This report describes two siblings in whom PAP developed during infancy [three years for the boy and four years two months for the girl]. The girl was admitted for chronic respiratory distress. Chest x-ray showed a reticulonodular pattern. Her brother was asymptomatic. The diagnosis of PAP was confirmed by open lung biopsy for the boy and broncho-alveolar lavage for the girl. Therapeutic broncho-alveolar lavages were performed [six for the girl and two for the boy], the girl lost dependence on oxygen therapy. 6 years later, the brother is still asymptomatic. The sister had two episodes of respiratory distress, after two and four years, that required therapeutic lavages. The last therapeutic broncho-alveolar lavage was performed for the first time by a Tunisian team