[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

[Clinical and etiological features of primary adrenal insufficiencies in children]

The chronic primary adrenal insufficiency or Addison's disease is uncommon in children and belongs generally to a complex syndrome. Study of the clinical and aetiological features of primary adrenal insufficiencies in children. In a retrospective study, we reviewed clinical and diagnostic data of all cases of Addison's disease admitted within a period of 15 years [from January 1991 to December 2006], in a department of paediatrics. Cases due to congenital adrenal hyperplasia were excluded. 6 cases of Addison's disease were diagnosed. Five patients are the product of consanguineous marriage. The age at the diagnosis of adrenal insufficiency yarned from 15 months to 9 years 8 months. The adrenal insufficiency was associated to Allgrove syndrome in three cases, to autoimmune polyendocrinopathy type 1 in one patient and to probable peroxisomal disease in another one. The etiological disease was not determined in one patient. A substitutive hormonal therapy was conducted in all patients. During a mean follow-up of 26 months, two adrenal crises were noted. larger studies about Addison's disease are needed to confirm the preponderance of the Allgrove syndrome

[Systemic juvenile idiopathic arthriris: diagnosis and management]

Systemic juvenile idiopathic arthritis is a relatively rare disease in childhood. Sometimes, difficulties are encountered because it is a diagnosis of exclusion. The authors describe the clinical, biologic, therapeutic and evolutive characteristics of this affection. It is a retrospective study during a period of 16 years from 1990 to 2005. Inclusion criteria respond to Durban criteria, after exclusion of other etiologies of febrile eruptions. The authors analyse epidemiologic and clinical characteristics of the disease, biologic exams, treatment and evolution. Nine eases are reported during study period. Patients are between 22 month and II year old. Biologic analysis shows an important inflammatory syndrome with a sedimentary rate superior to 80 mm at first hour in average, a white blood cell count superior to ll.000/mm3. the evolution under treatment is characterized by resistance to steroids in one case and dependence to steroids in 2 eases. The complications include a macrophage activation syndrome in 2 cases and complications secondary to steroids in one ease. Systemic juvenile idiopathic arthritis remains a relatively rare disease in childhood. It's management is improved by the emergency of new treatments bnt its evolution is unpredictable

[Cholestasis in infant: a study of the children's hospital of Tunis]

Cholestasis in infant constitutes an heterogeneous group of disease; diagnosis and management are often difficult. The Aim of the study is to describe clinical, paraclinical characteristics and outcome of infants hospitalized for cholestasis in children's Hospital of Tunis. A retrospective study of 94 infants with cholestasis was conducted. Patients were hospitalized in four departments of paediatrics of our hospital between January 1995 and December 2005. Cholestasis complicating severe sepsis and visceral leishmaniasis were excluded. Incidence of cholestasis was 8.5 cases/year which represented 0.72% of the hospitalizations. Sex ratio was 1.08 and mean age at diagnosis was 105 days [extremes: 1 day- 24 months]. Biliary atresia was the most common cause of extra hepatic cholestasis [13.8%]. Normal A GT cholestasis [11.7%], benign neonatal cholestasis [11.7%] and bile duct hypoplasia [9.5%] represented the most common aetiologies of intra hepatic cholestasis. Aetiology remained unknown in 12.7% of cases. Only three infants with biliary atresia had Kasai operation. After a mean follow-up of 6 years, 18% of patients had portal hypertension, 14.8% had hepatic failure and mortality rate was 14.8%. Cholestasis of unknown aetiologies are frequent in our hospital. Poor prognosis, in our study, is due to delay to diagnosis and difficulties in medical and surgical management

[Hyperlipidaemia associated to inaugurated diabetic ketoacidosis]

Severe hyperlipidaemia in presenting diabetic ketoacidosis was rarely reported in child.We report the case of a three-year-old girl with presenting diabetic ketoacidosis. Family history was negative for hyperlipidaemia. Serum was creamy pink in gross appearance. The child has a hyperlipidaemia with serum triglycerides 18.5 mmo1/1 and serum cholesterol 13.8 mmol/l. The hyperlipidaemia disappeared with insulin therapy within seven days. We study the clinical, laboratory, pathogenic and evolution features of this uncommon trouble in diabetic children