[Chronic granulomatous disease: clinical and outcome profiles in 20 cases]

Chronic granulomatous disease [CGD] is an uncommon primary immuno deficiency, resulting in bacterial infections produced by catalase- positive microorganism and fungal diseases. The present study describes the clinical characteristics, the infections detected in a group of pediatric patients diagnosed with CGD. A review is made of the clinical records of 20 pediatric patients diagnosed with CGD between first January 1999 and 31th December 2008. The mean age at diagnosis was 10.6 years. The diagnosis was confirmed using the nitroblue tetrazolium test [NBT]. All patients received antibiotic prophylaxis with cotrimoxazole and itraconzole. The median age at the time of diagnosis was 23.8 months. There were 14 boys and 6 girls. In the course of these disease processes there were 97 infections: abscesses [n = 32], lymphadenitis [n=9], pneumoniae [n=8], invasive aspergillus pneumonitis [n=4], osteomyelitis [n=5], gastroenteritis [n=6], sepsis [n=2] and others [n=31].The principal microorganisms isolated were: Staphylococcus sp. [n=32], Aspergillus sp. [n=5]. Two patients had died due to Salmonella infections. CGD isn't rare in Tunisia. The most common clinical manifestations were abscesses and pneumonia

[ transfusion related incidents in polytransfused children: the experience of 11 years of paediatric activity]

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

[Jacobsen syndrome: a case report]

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

[Osteoporosis in tunisian major beta thalassemic patients a study of 64 pediatric cases]

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

[Anhidrotic ectodermal dysplasia: a spare cause of prolonged fever in female infant]

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

[Splenectomy among thalassemia major patients: a study of 44 cases]

The present study was designed to explore the principle indications of splenectomy in transfusion dependant thalassemie patients and to evaluate incidence, risk factors and degree of severity of splenectomy among these patients. In a retrospective analysis, we identified patients with thalassemia major who underwent splenectomy within an 9 years period. Transfusion needs were calculated by the volume of annual blood units devided by the patients' weight at the middle of the same period. Occurrence of hypersplenism is defined by transfusion's requirement over 250ml/kg/year with or without periphericcytopenia. Statistical analysis was carried out using software [SPSS version 11.5]. 44 thalassemie patients took part in the study [mean age, 13 years; range: 42 months-18years]. The mean age of splenectomy was 6 years and 9months [2years-1 Syears and Gmonths]. The mean indication of splenectomy was the increase of transfusion requirement. Pneumococcal, haemophilus influenzae and meningococcal A+C vaccinations were administered respectively to 97.7 per cent, 88.6 per cent and 90.9 per cent of patients. We assisted clinically to a reduction of transfusion requirement and biologically to the increase of haemoglobin's mean level. Ferritinemia and iron overload were notably decreased. Of the 44 patients who underwent splenectomy 10 developed complications [22.7 per cent]. Splenectomy is also beneficial in treating thalassemia major. It reduces patients' transfusion requirement and iron overload and increases the mean level of haemoglobin. Overwhelming post splenectomy infection remains a serious complication in these patients

[Bronchogenic cyst: an uncommon cause of Congenital Lobar Emphysema]

We report a case of a one-month-old boy who developed respiratory distress. Chest-X- ray and CT scans showed over distension of the left upper lobe and mediastinal shift in favour of congenital lobar emphysema [CLE]. One month after uneventful lobectomy, he was admitted at hospital for another episode of respiratory distress. Chest radiograph revealed relapse of compressive emphysema in the remaining left lobe. Gastro esophageal transit and MRI were performed, showing mediastinal cystic mass. Thus, patient underwent thoracotomy. Surgical examination found a subcarinal bronchogenic cyst that compressed main left bronchus, causing the emphysema of upper and lower left lobes. Histological examination of removed cyst confirmed these data. Authors discuss causes of diagnosis delay

[Inaugural diabetic acido-ketosis: rare endocrine complication in thalassemia child]

Diabetes is a sparse endocrine complication of f3 thalassemia major. We report the case of a 14year-old boy with beta thalassemia major, who was polytransfused without regular iron-chelation therapy. He was admitted to hospital with acidosic dyspnoea and severe deshydratation without signs of cardiac failure. Urine examination showed glucosuria and acetonuria. On laboratory exams, glycemia was 39 mmol/l with severe metabolic acidosis. The diagnosis was a diabetic acido-ketosis requiring insulin therapy. Diabetes was hardly controlled; serum ferritin level was 4500 mg/l. Serum ferritin level is the main risk factor for diabetes in patients with beta thalassemia. Thus, an adequate iron-chelation therapy can prevent this complication