Detection of a novel splicing mutation causing analbuminemia in a Libyan family.

BACKGROUND AND OBJECTIVES: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans. DESIGN AND METHODS: The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced. RESULTS: DNA sequencing revealed the presence of a novol homozygous G➔T transition in the first base of intron 11 (c.1428+1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing. CONCLUSION: Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia.

Nephrotic syndrome and Guillan-Barré Syndrome: a rare association in child.

Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS) have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was verified with a nerve conduction velocity test as well as. The GBS symptoms improved gradually on intravenous immunoglobulin. Three weeks later, he developed severe proteinuria and edema; laboratory investigation showed nephrotic syndrome which responded to steroid therapy. Renal biopsy showed minimal change glomerulonephritis. He remained free of proteinuria during his 20 months of follow-up.

[Thrombocytopenic idiopathic purpura: predictive factors for chronic disease]. / Facteurs predictifs de passage a la chronicite du purpura thrombopenique idiopathique.

UNLABELLED: THE AIM of this study is to determine factors predicting development of chronic thrombocytopenic idiopathic purpura. METHODS: It was a retrospective study, regarding the cases of PTI diagnosed in "service de medicine infantile C Hôpital d'Enfants de Tunis" during 11 years. A comparison was done between two groups: the first including acute PTI and the second including chronic and recurrent PTI. Factors predicting development of chronic disease were searched by the Fisher test which was significant when p < 0.05. RESULTS: 33 cases of PTI were diagnosed. The ratio sex was 1.06. The mean age was five years and a half. The disease onset was insidious in three cases; all of them have had a chronic course. An haemorrhagic personnel background was present in three cases. Counselling cause was always petechies and ecchymoses. The mean platelets rate was 14555.5/mm3. Therapeutics abstinence was carried out in five cases. 20 infants received an initial corticotherapy. The immunoglobulins were prescribed in nine cases, witch six associated to Corticotherapy. Three modes of outcome were discerned: acute PTI (n = 23), recurrent PTI (n = 4) and chronic PTI (n = 6). Factors predicting development of chronic disease were: haemorrhagic personnel background, an insidious disease onset and the failure of an initial therapeutic abstinence. CONCLUSION: Acute PTI is the most common. The disease had a chronic or recurrent outcome in 1/3 of cases. The search after factors predicting chronic disease allows an early prognosis. Thus, a best management of the disease can be achieved.

Feminizing adrenocortical adenoma in a 5 year-old girl.

Adrenocortical adenoma is a rare etiology of isosexual precocious puberty in girls. We report the case of a 5 year-old girl with isosexual precocious puberty. Abdominal ultrasound and magnetic resonance imaging revealed a well-defined mass of 32 x 28 mm situated in the left suprarenal region, but no signs of calcification or metastasis. Estradiol and testosterone levels were elevated, cortisol plasma level was normal, and bolus intravenous injection of GnRH showed unresponsiveness of LH and FSH. Pathological examination after complete surgical resection showed an adrenocortical adenoma. Five years later, there had been no recurrence and abdominal ultrasound examination was normal. The diagnosis of feminizing adrenocortical adenoma was confirmed.

[Cholestasis in infants: a study of the Children's Hospital of Tunisia]. / Les cholestases du nouveau né et du nourrisson: experience de l'Hôpital d'Enfants de Tunis.

BACKGROUND: 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. METHODS: 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. RESULTS: 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 Kasaï 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%. CONCLUSION: 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.

Etiology and outcome of bronchiectasis in children: a study of 41 patients.

BACKGROUND: Bronchiectasis remains an important cause of chronic suppurative lung disease in the developing world. The aim of this study is to describe the epidemiological characteristics, clinical features, underlying aetiologies and outcome of bronchiectasis in the paediatric hospital of Tunis. METHODS: A retrospective study of 41 children with bronchiectasis was conducted between January 1994 and December 2006. Diagnosis was made in patients with clinical suspicion of bronchiectasis associated with abnormalities on chest X ray (n=37) and/or on high resolution computed tomography (HRCT) (n=36). RESULTS: Mean age at diagnosis was 5 years 9 months; (range: 6 months-14 years). Persistent cough and bronchorrhea were the most common symptoms. Fourteen patients (34%) had dyspnoea on first presentation, 11 of them (26.8%) had chest deformation and/or finger clubbing. Haemoptysis was noted in only two cases. Mean time to diagnosis from symptom onset was 2.7 years (range: 2 months-4 years). The underlying aetiologies were identified in 52% of patients. Cystic fibrosis (17%), previous pneumonic illness (9.7%), primary ciliary dyskinesia (9.7%) and immunodeficiency (9.7%) were the most common causes. After a mean follow-up of 6.6 years, the annual lower respiratory infection rate decreased from 7.2 +/- 3 to 3.1 +/- 2.6 (p<0.05), Twenty one point nine per cent of patients had chronic respiratory failure and five patients required surgery. CONCLUSIONS: Delays diagnosis of bronchiectasis remains important in our country. Congenital and indeterminate aetiologies are the most common forms. Prognosis is poor with a high prevalence of chronic respiratory failure.

[Treatment of upper gastrointestinal bleeding in portal hypertension in children]. / Traitement des hémorragies digestives dans l'hypertension portale de l'enfant.

Variceal bleeding is the most common cause of severe gastrointestinal bleeding in chilhood. Biliary atresia and portal venous obstruction are the most common causes. The patients with acute bleeding, pharmacotherapy with octreotide should be used immediately. All of these patients should undergo therapeutic endoscopy with band ligation. All children surviving variceal hemorrage should undergo secondary prophylaxis with band ligation. Transjugular intrahepatic portosystemic shunt creation in children is as safe in children than in adults. The primary prophylaxis in children with oesophageal varices is controversed.

[Helicobacter pylori infection in childhood revealed by hematemesis: endoscopic and pathologic patterns]. / L'infection a Helicobacter pylori chez l'enfant revelee par une hemorragie digestive: aspects endoscopiques et histologiques la Tunisie.

BACKGROUND: Helicobacter pylori infection frequency in hematemesis was scarcely studied. AIM: to asses the frequency of this infection in children with upper gastrointestinal bleeding and to study the endoscopic and histological features. METHODS: It is a retrospective study including 180 children who underwent an endoscopy for upper gastrointestinal bleeding. Our population was divided in two groups. The group 1 (n=95) has performed gastric biopsy. The group 2 (n=95) has'nt performed gastric biopsy. For each group, we studied the personal and familial history of gastroenterologic disease, the hospital where they come from, the importance of bleeding, the drug intake effecting the gastric mucosa, the endoscopic and histological features. RESULTS: The helicobacter pylori infection was present in 48% of the children. The mean age of these children was 99.8 +/- 42.1 months versus 95.7 +/- 44 months (p=0.13) The comparison of the two groups according to Hp infection, and the others parameters don't found any differences. All the infected children have chronic gastritis 40/40 versus 13/44 in the non infected children (p>10 -6). CONCLUSION: The frequency of Hp infection was high in this group of patients with upper gastrointestinal bleeding. It was probably underestimated because the investigation was not complete. We emphasize that Hp infection has to be investigated and systematically eradicated whenever there were severe symptoms like hematemesis indicating therefore organic disease.

[Chronic gastritis in children]. / Les gastrites chroniques chez l'enfant.

BACKGROUND: Active gastritis, atrophic gastritis (AG) and intestinal metaplasia are lesions associated with Helicobacter pylori (H. pylori) infection in adults. AIM: To assess the prevalence of chronic gastritis, its histological characteristics and clinical features in children. METHODS: 345 children (M/F: 151/194, mean age: 8.6 +/- 3.7 years; range: 1-18 years) were enrolled, referred for upper gastrointestinal endoscopy (UGI endo) with clinical manifestations of gastritis, i.e., recurrent abdominal pain (n = 232, 67.2%), upper gastrointestinal bleeding (n = 59, 17.1%) and miscellaneous (n = 53, 15.3%). Four perendoscopic gastric biopsy specimens (antrum: 2, fundus: 2) were taken. Biopsies were assessed and graded according to the updated Sydney system. H. pylori infection was considered if 2 out 3 tests were positive (culture, histology and rapid urease test), whereas 3 concordant negative results identified H. pylori negative children. RESULTS: H. pylori infection and chronic gastritis were detected in 215/345 (62.3%) (M/F: 104/117, sex ratio M/F = 0.89) and 221/345 (64.05%) children, respectively. Recurrent abdominal pain (n = 149, 67.4%) was the main clinical features of chronic gastritis followed by vomiting (n = 43, 19.5%) and upper gastrointestinal bleeding (n = 41, 18.6%). Any clinical features were however found to be specific. UGI endo showed; nodular gastritis (n = 90, 40.72%), congestive gastritis (n = 84, 38%), gastric ulcer (n = 9), bulbar ulcer (n = 5) and normal (n = 47, 21.2%). Chronic gastritis was active in 115 cases (52%) and was significantly associated with nodular gastritis (p < 0.05). Thirty two chronic gastritis (14.4%) exhibited AG (M/F: 16/16, mean age: 9.4 +/- 3.4 years) and 30/32 (93.7%) were H. pylori positive. AG was significantly associated with H. pylori infection (p < 0.0001) and nodular gastritis (p < 0.005). Active, follicular and AG were significantly associated with H. pylori infection (p < 0.00001). Three patients exhibited intestinal metaplasia. CONCLUSION: Chronic gastritis is frequent in children. Any clinical features were found to be specific. It significantly associated H. pylori infection and nodular gastritis. Atrophic gastritis was found in 14.5% of children.