RESUMO
In this study, we suggest analyzing the main transfusionnel incidents arisen during the activity of transfusion in the day hospital of the national center of bone-marrow transplant. It was a retrospective study over 11 years enlisting 200 patients all transfused at least once. They were distributed into 111 boys and 89 girls. Their average age was of 9 years [1-25 years]. We call incidental transfusionnel any unexpected or unwanted effect of transfusion origin. This incident is immediate when it arises during 8 days following the transfusion, it is delayed exceeded these deadlines. During these 11 years of activities our 200 patients received 22680 pockets of blood. The main transfusion indications were beta thalassemia major in 135 cases and sickle cell disease in 48 cases. Thirty five immediate incidents arose [17.5 per cent] [0.016 incidents / patient/ year]. Twenty eight delayed incidents were noted [14 per cent] [0.012 incidents / patient/ year]. The transfusions related incidents stay rare events. However their census and their compulsory declaration are indispensables to improve the transfusion security
RESUMO
The Jacobsen syndrome is a malformatif syndrome characterized by a distal deletion of the long arm of chromosome 11. It associates facial dysmorphism, visceral and skeletal anomalies and thrombocytopenia. We describe a Jacobsen syndrome in an infant. The diagnosis was suspected because of association of facial dysmorphism, interventricular septal defect, a malrotation of the mesenteric axis, toes abnormalities and thrombocytopenia. The disease was confirmed by genetic analysis which shows a terminal deletion 11 q2.4. Jacobsen syndrome is a possible cause on thrombocytopenia. We shall evocate it if a malformatif syndrome is associated
RESUMO
Osteoporosis has been described extensively in adult thalassemics. Fewer studies have been reported in thalassemic children. Study the frequency and outcome of osteoporosis in Tunisian major beta thalassemic children and to identify principal clinical risk factors and biological characteristics of its occurrence. It's a prospective study enrolled between 1 January and 31 December 2008. 64 thalassemic major patients were evaluated. The study of bone mineral density was provided by X-ray photon. Osteoporosis was defined by Z score beta -2SD at lumbar [L1-L4] sites. 30 of patients studied [46.87 per cent] had a Z score beta 2-SD. Compared with non-osteoporotic patients we have identified as risk factors: the age of the patient [p = 0.001]. The number of transfusion [p = 0.002] and the increased of the annual consumption of blood [p = 0.02]. We found a larger number of growth retardation [p =0.004]. Iron overload was greater in the group of osteoporotic patients [p = 0.04]. The sex, age at diagnosis, the average of hemoglobin, the status of viral hepatitis B and C, the incidence of allo or auto-immunization, and thyroid status seem to have no influence the occurrence of osteoporosis in our study. The onset of osteoporosis is associated directly to higher transfusion requirements and age > 12 years
RESUMO
Anhidrotic ectodermal dysplasia [AED] is a rare, hereditary genodermatosis classically X-linked recessive disorder. Autosomic transmission is exceptional. The prolonged non-explicated fever could be a circumstance of diagnosis. Salsabil is a 14 month-old-girl. She was admitted with fever at the age of 29 days. Physical examination and bacteriogical findings were normal. Salsabil was admitted several times for "prolonged fever". In the last counseling Salsabil had a discrete facial dismorphy, desquamated dry skin, sparse, fine and slowly growing hair. Inflammatory assessment was normal. Salsabil's mother history taking revealed that Salsabil never sweats. The absence of sweat glands in skin biopsy leaded to the diagnosis of AED. Salsabil had no immunity disorder. The non explicated prolonged fever with a normal inflammatory assessment could be a circumstance of the diagnosis of AED. It is classically X-linked disease but autosomic transmission exists