Ahmed Maherzi

Celiac disease in Tunisian children: A second screening study using a “new generation” rapid test

This work aims to estimate celiac disease prevalence in school-children in the island of Djerba and assess rapid method feasibility for screening. We screened 2064 schoolchildren by a rapid method to detect IgA anti-tissue transglutaminase and IgA deficiency. Children with positive results were tested for IgA anti-transglutaminase and anti-endomysium by conventional tests. In positive children, intestinal biopsy was performed. IgA deficiency suspected by rapid method was confirmed by nephelometry. In these cases IgG anti-endomysium was performed. Rapid test was positive in 7 children; conventional serology was positive in all and 6 of them accepted the biopsy. Total villous atrophy was observed in 5 while intestinal mucosa was normal in one. Among children with positive serology, 3 had silent form, 1 chronic diarrhea, one growth failure and 2 had borderline growth. IgA deficiency was suspected in 13 cases and was confirmed in 11 children tested. Prevalence of celiac disease was 0.24–0.34% and that of IgA deficiency 0.5–0.6%. This screening study confirms that celiac disease is relatively common in schoolchildren in Tunisia. It confirms also that even those with symptoms typical for celiac disease escape diagnosis. Rapid test is better accepted by parents and children than test requiring a venous blood sample.

Intubation-Surfactant-Extubation Strategy in a Medical Resource-limited Department: A Prospective Study

B A C K G R O U N D Benefits of the intubation, surfactant and extubation (INSURE) strategy are well established in the treatment of respiratory distress syndrome (RDS). However, it can be unsuccessful [1, 2]. Nasal continuous positive airway pressure is the only form of ventilatory support at our institution. The aim of this study was to determine risk factors of the failure of INSURE strategy.

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Abstract Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks’ gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.

Imaging of Kawasaki Disease

Kawasaki disease (KD) is an acute systemic disease with generalized vasculitis with unknown etiology that occurs predominantly in infants and young children. The most feared complication is myocardial infarction and death due to thrombosis of coronary artery aneurysms. Imaging plays an important role in early diagnosis and follow up of the disease. Echocardiography is rapidly accessible and innocuous, and it is the modality of choice for the initial diagnosis and follow-up of coronary artery lesions in young patients with KD. MDCT coronary angiography is more sensitive than echocardiography for the detection of aneurysms located on the distal segments. Radiation exposure in children is still a main limitation to the use of this technique for the follow-up of the disease. MRI is an interesting noninvasive technique for the evaluation of coronary arteries, myocardial perfusion and left ventricular function. Coronary angiography is still the gold standard for coronary artery lumen evaluation but remains invasive and is mainly reserved for cases where catheter interventions should be performed.