[Management of patients with major beta thalassemia in a paediatric department in the south of Tunisia: About 26 cases]. / Prise en charge thérapeutique des patients atteints de bêta-thalassémie majeure dans un service de pédiatrie du sud tunisien : à propos de 26 cas.

AIM: Our objectives were to assess the management of patients with major thalassemia and identify the various complications and monitoring means. PATIENTS AND METHODS: A retrospective study was conducted on 26 ß-thalassemic patients in the department of paediatrics, Hédi Chaker hospital, Sfax, Tunisia during a period of 25 years (from 1 January 1990 to 31 December 2014). RESULTS: The mean age of the beginning of transfusion was 11.5 months. That was with phenotyped red blood cells but not leukodepleted blood. Twenty-three patients received chelation. Before 2001, all patients received deferoxamine, poor adherence to this treatment was observed in 66% of cases. It was replaced by deferiprone since 2006 and deferasirox since 2009. A combination of 2 or 3 chelators was indicated for four patients. A total splenectomy was performed in 10 cases patients; it was due to hypersplenism. The bone marrow transplant was performed for one patient at the age of 9 year but it was rejected. Many complications were detected: endocrine complications (19 cases), immune complications (9 cases), gallbladder stones (5 cases), cardiac complications (4 cases), osteoporosis (3 cases), infectious complications (3 cases) and thromboembolic complications (2 cases). We noted some side effects related to chelation therapy in twelve cases. Four patients were dead. CONCLUSION: Improving the medical care of homozygous ß-thalassemic children requires adherence to transfusion regimen and chelation therapy. Bone marrow transplantation remains the only possible curative therapy, which must be promoted in our country.

Chylomicron retention disease: A rare cause of chronic diarrhea.

Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.

[Hereditary hemorrhagic telangiectasia. Report of a pediatric case]. / La maladie de Rendu-Osler-Weber : à propos d'une nouvelle observation pédiatrique.

Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.

[An uncommon cause of hematemesis in children: factor XI deficiency]. / Une cause inhabituelle d'hématémèse chez l'enfant : le déficit en facteur XI.

Congenital factor XI deficiency, also called hemophilia C, is a rare coagulation disorder that is particularly common in Ashkenazi Jews. Individuals with factor XI deficiency may or may not have a mild bleeding tendency, which is typically provoked by surgery or trauma. We report the case of a 5.5-year-old girl who presented with abdominal pain, vomiting, and hematemesis. Biological tests showed a prolonged activated partial thromboplastin time (aPTT) of 113 s (control=29 s) caused by a constitutional factor Xl deficiency (2.7%). The progression was spontaneously favorable.

[Primary distal renal tubular acidosis in children in the South of Tunisia: study of 15 cases]. / L'acidose tubulaire distale primitive de l' enfant : etude de 15 observations.

BACKGROUND: primary distal renal tubular acidosis in children (RTA) is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen (H+) in the distal tubular. AIM: To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. PATIENTS AND METHODS: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years (1988-2010). We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. RESULTS: During the study period 15 cases of distal RTA were collected. The average age was 6 months (1 month -2 years). Most common presenting symptoms were vomiting (8cases), failure to thrive (4cases), lack of appetite, polyuria-polydipsia syndrome (1case) and urinary infection (2cases). The clinical examination showed staturoponderal delay (9 cases), dehydration (6 cases), signs of rickets (3 cases) and polyuria (10 cases). Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. CONCLUSION: The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology.

[Posterior reversible encephalopathy syndrome induced by acute postinfectious glomerulonephritis]. / Syndrome d'encéphalopathie postérieure réversible induit par une glomérulonéphrite aiguë postinfectieuse.

INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity characterized by neurologic symptoms in association with usually reversible bilateral posterior hemispheric edema on neuroimaging. It has been described in adults more than in children. Many pathological conditions and treatments have been associated with this syndrome. CASE REPORT: We report the case of an 11-year-old boy who presented with acute postinfectious glomerulonephritis, renal failure, and arterial hypertension. Two days after admission he developed generalized tonic clonic seizures. His blood pressure was 145/90 mmHg. Computed tomography showed hypodense lesions in the occipital and frontal areas. Based on the clinical manifestations and the typical pattern of brain imaging, the diagnosis of PRES was retained. Clinical manifestations and radiological abnormalities resolved after antihypertensive therapy. Axial FLAIR images and diffusion-weighted magnetic resonance images showed a slight hyperintensity signal in the left occipital area. CONCLUSION: Acute postinfectious glomerulonephritis in children should be considered a risk factor for developing PRES.

[Hypoplasia of the internal carotid artery: a rare cause of cerebral ischemic stroke in children]. / L'hypoplasie de la carotide interne : une cause rare d'accident vasculaire cérébral ischémique chez l'enfant.

Hypoplasia of the carotid arteries is a rare congenital anomaly which, when symptomatic, presents as cerebral ischemia or hemorrhage. We report a case of hypoplasia of the carotid arteries revealed by cerebral ischemic stroke in an infant with hereditary spherocytosis. The diagnosis was confirmed by MR angiography. We describe this rare cause of stroke in children and the characteristics of its association with hereditary spherocytosis.

[Severe corrosive oesophagitis : are high doses of methyl prednisolone efficient to prevent oesophageal caustic stricture in children?]. / Les oesophagites caustiques severes. Les doses elevees de solumedrol sont-elles efficaces pour prevenir les stenoses caustiques ?

BACKGROUND: Corrosive oesophagitis stricture is the long term complication of severe corrosive oesophagitis. The aim of our study was to evaluate the effect of a high doses of steroids on incidence and quality of oesophageal stricture. PATIENTS AND METHODS: We reviewed the case histories of 28 children seen at children hospital from 31 December 1991 to 31 december 2001. These children has second and third degree oesophageal burns and they were treated by systemic Methylprednisolone (1000mg/1,73/m2 SC). RESULTS: the frequency of stricture was 12/26 (46%). Ten children required A mean of 6,7 (5,74) dilatation range (1 - 17). One patient required an oesocoloplasty. The frequency of stricture in the group treated early before the 24th hour and after the 24th hours was (9/21) (47,4%) versus (3/7) (42,9%). This difference was not significant (P = 1). The frequency of stricture in the group treated less than 21 days and more than 21 days was 6/17 (40%) versus 6/9 (66,7%). This difference was not significant (P = 0,400). High doses of methyl prednisolone seems to decrease the risk of oesophageal stricture. We found no difference between the children treated before the 24th hours and those treated after the 24 hours and those treated less than 21 days and those more than 21 days.

[Therapeutic management and clinical course of severe caustic oesophageal burns in children treated with methyl-prednisolone. Experience at a digestive endoscopic unit]. / Analyse des modalites therapeutiques et evolutives des oesophagites caustiques severes chez l'enfant traites par les bolus de methyl prednisolone. Experience d'une unite d'endoscopie digestive.

We reviewed the case histories of 28 children seen at children hospital from 31 December 1991 to 31 December 2001. These children has second and third degree oesophageal burns and they were treated by systemic Methylprednisolone (1000mg/1, 73/m2 SC). We divided the 26 children in four groups according to the time we began the steroids (before or beyond the 24th hours of the accident and according the number of steroids's bolus (less or more than 21 bolus). We analysed the number and the treatment of stricture in each group. High doses of methyl prednisolone seem to decrease the risk of oesophageal stricture. We found no difference between the children treated before the 24th hours and those treated after the 24 hours and those treated with less than 21 bolus and those with more than 21 bolus.