Sihem Barsaoui

Screening for celiac disease in idiopathic pulmonary hemosiderosis

AIM The aim of this report was to screen for celiac disease (CD) in patients with idiopathic pulmonary hemosiderosis (IPH). PATIENTS AND METHODS Patients with IPH treated at the Childrens Hospital of Tunis between 1976 and 2006 were reviewed and investigated for CD, using serological and histological tests. RESULTS A total of 10 children (two boys and eight girls) had IPH. The mean age at diagnosis was 3.1 years. Three had digestive symptoms and positive CD serology, which was confirmed by histological data. Clinical and radiological findings improved markedly in all CD patients with corticosteroid treatment combined with a gluten-free diet. Symptoms of IPH and CD both returned in one patient who stopped the gluten-free diet. CONCLUSION Three of our 10 patients with IPH also had CD. These data illustrate the close etiopathogenic link between IPH and CD, and strongly suggest that CD be looked for in IPH patients, especially in those with symptoms suggestive of CD.

Pseudotumoral cutaneous aspergillosis in chronic granulomatous disease, report of a pediatric case.

Abstract:Invasive aspergillosis is a life-threatening condition in patients with chronic granulomatous disease (CGD). Skin invasion by Aspergillus occurs most commonly by contiguity to a neighboring cavity. We describe an unusual case of invasive cutaneous aspergillosis presented as a large burgeoning tumor in a 4-year-old girl with CGD who underwent surgical treatment for bifocal osteomyelitis of the left leg. The skin invasion occurred 4 months after a “successful” treatment of invasive pulmonary aspergillosis. Atypical presentation and diagnostic difficulties are discussed. Invasive cutaneous aspergillosis may be polymorphic. The diagnosis should be considered early in the etiological investigation of any suspicious skin lesions in CGD even in uncommon aspects such as burgeoning tumors.

Testicular tumours in prepubertal children: About eight cases.

Background: To analyze the spectrum of testicular tumors in prepubertal children and the therapeutic resultants in an unselected population. Materials and Methods: Our hospital database was analyzed for testicular tumors from January 1995 to December 2010 concerning clinical presentation, treatment and therapeutic results. Results: Eight patients were operated on because of testicular tumors. In six cases (75%) the tumor was benign: benign teratoma (four cases), epidermoid cyst (one case) and immature teratoma (one case). Two patients (25%) had a malignant tumour: yolk-sac tumour (two cases). All this children underwent surgery. Radical inguinal orchidectomy was performed in six cases and conservative surgery was performed in two cases. One patient has received adjuvant chemotherapy. Follow-up was uneventfully three years after primary surgery. Conclusion: In prepubertal children, most testicular tumours are benign. If tumour markers were negative testis-preserving surgery can be proposed, complete excision of the tumour should be ascertained. In the case of testicular teratoma, the possibility of contralateral tumour should be considered in the follow-up.

Severe toxic methemoglobinemia mimicking septic shock in an infant.

Infants younger than six months of age are at an increased risk of methemoglobinemia (MTH) (Woolf and Wright, 2004). However, severe toxic MTH with a methemoglobin rate exceeding 60% has been rarely reported in the pediatric literature. The diagnosis may be unrecognized in infants, with a life-threatening condition due to multivisceral tissue hypoxia. We illustrate with the following case the occurrence of a central cyanosis associated to neurological distress and cardiovascular shock, due to a severe MTH in a young infant exposed to nitrites.

Hémorragie digestive révélant un corps étranger œsophagien chronique. À propos d’une observation pédiatrique

human hairless (HR) au niveau du chromosome 8p 12 a été rapportée initialement par Ahmad et al. [5]. Ultérieurement, plusieurs publications ont confirmé ce type de mutation et ont permis de mieux localiser le gène [1,6,7]. Des mutations, parfois multiples, au niveau du gène HR sont impliquées dans la pathogénie de ce syndrome [1]. L’hétérogénéité phénotypique des atrichies congénitales est causée par la variabilité du siège des mutations au niveau de ce gène [7].

Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.

PURPOSE Determining the frequency of M470V polymorphism in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of M470V polymorphism in cystic fibrosis variable presentation and course. Additionally, studying the origin of cystic fibrosis transmembrane conductance regulator gene in Tunisian population and its evolution among populations worldwide. PATIENTS AND METHODS The genotyping of M470V marker was realized by PCR-RFLP technique in 34 unrelated patients and 50 healthy subjects. RESULTS Statistical difference was found in the genotype and allelic distribution between CF and control groups. Exclusive association between F508del allele and M470 allele was noted. CONCLUSION This study has contributed to better understanding involvement of the M470V polymorphism in the CF clinical expression in the Tunisian population and has confirmed the utility of this marker in the study of the origin and evolution of the CFTR locus in the human history.

Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study

Following publication of the original article [1], one of the authors flagged that the title of the article was submitted (incorrectly) with “Full title:” at the beginning.

Angiotensin-converting enzyme insertion/deletion gene polymorphism in cystic fibrosis patients

Cystic fibrosis (CF) is the most common recessive autosomal disease in Caucasian population, caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Bremer et al. 2008). CF affects a number of organs but its effects on the lung constitute the major cause of morbidity and early mortality. Disease variability expression in patients bearing the same combination of mutations emphasizes the role of genetic background (modifier gene) and environment (Cutting 2005). The angiotensin-converting enzyme (ACE) gene was selected as a possible modifier gene for CF because of the proinflammatory activity of the ACE protein (Marson et al. 2012). The ACE enzyme is an important vasoconstrictor and stimulant of aldosterone; it catalyzes the transformation of angiotensin I to angiotensin II peptide and is involved in the blood pressure control, and the electrolyte balance of blood (Arkwright et al. 2003). The ACE gene is located in the 17q23.3 region of intron 16, a polymorphism based on the insertion or deletion of a 287-bp ALU repeat sequence resulting in three genotypes: DD and II homozygous and ID heterozygous (Marson et al. 2012). The aim of this work was to study the role of the ACE gene I/D polymorphism in the severity of the clinical expression of cystic fibrosis in a Tunisian CF population.