[Primary immunodeficiencies: report of 33 Pediatric Tunisian cases]

Background: Primary immunodeficiencies [PID] are a group of heterogeneous and relatively rare diseases

Aim: To determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients

Methods: A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years [1991-2012]

Results: A masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency [36%], mostly severe combined immunodeficiency [SCID] [21%], followed by congenial defects of phagocyte function [33%], mostly chronic granulomatosis disease [21%]. Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections [66%] recurrent oral thrush [57%] and diarrhea [42%]. Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases

Conclusion: The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia

[Infantile hypertrophic pyloric stenosis. A 142 cases report]

Hypertrophic pyloric stenosis [HPS] is a common condition affecting infants before the first three months of life. Analysis of our results and comparison with literature to determine particularities of HPS in our country. We conducted a retrospective review of 142 patients presenting HPS, between 1990 and 2003. In this study male sex was predominant, with a sex-ratio of 3,8/1. The classical symptom of projectile vomiting was always present, a pyloric tumor was palpated in 19,7% of the cases, metabolic disturbance was noted in 44,3% of patients. The diagnosis was confirmed by ultrasonography and sometimes contrast upper gastrointestinal study. All the infants were treated surgically unless three patients dying before operation, because of a late diagnosis. Postoperative courses were uneventful in 87.4% of cases. Three patients were dead after operation, because of medical complication. The cause of HPS is unknown. The diagnosis is suggested by clinic features and confirmed by imaging. Early diagnosis prevents from metabolic complications due to vomiting. Surgical treatment allows early feeding and is associated with a low complication rate and a good long-term outcome

[Prevalence and severity of asthma, allergic rhinoconjunctivitis and atopic eczema in "Grand Tunis" schoolchildren. ISAAC]

The aim of this study was to assess the prevalence and severity of asthma, allergic rhinoconjunctivitis and atopic eczema in 13 - 14 year old children living in "Grand Tunis", Using the international study of asthma and allergies in childhood [ISAAC] questionnaire, 3350 schoolchildren aged 13-14 years, from the Grand Tunis [Ariana, Ben Arous, Manouba, Tunis] were studied. Our results showed that in the past year 13.2% of children had wheezed, 1.4% had more than 12 attacks and 4.3% had experienced a speech limiting attack. 29.7% had symptoms of allergic rhinoconjunctivitis and 8.3% atopic eczema. The classic preponderance of asthma in boys has not been retrieved in our study. The highest level of wheeze was found in an agricultural area. According the published data, asthma prevalence in Tunisian schoolchildren is intermediate and allergic diseases are perhaps a common childhood diseases in Tunisia