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Nutcracker syndrome is a rare cause of hematuria in children. Clinical signs relate to compression of the left renal vein between the aorta and the superior mesenteric artery. The diagnosis is suggested on cystoscopy, which reveals unilateral hematuria, and confirmed by imaging. We report the case of a 4-year-old child who presented nutcracker syndrome confirmed by CT angiography of the abdomen after excluding the other causes of hematuria. Through this observation, we emphasize the reality of this syndrome in children and the value of imaging in the evaluation of this rare affection., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and caused by mutations in EYA1 and SIX1 genes. Mutation in SIX1 is responsible also for DFNA23, a locus for non-syndromic HI. Strikingly, the severity of the phenotype did not seem to correlate with the type of SIX1 mutation. Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. This mutation is located at the same position as the mutation identified in the Catwhesel (Cwe) mouse. No renal and branchial defects were observed in our family nor in Cwe/+ mice. A homology model revealed that the replacement of the Glutamate by a Lysine alters the electrostatic potential surface propriety which may affect the DNA-binding activity., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Purpose: A retrospective analysis of risk factors for late neurological toxicity after nasopharyngeal carcinoma radiotherapy., Patients and Methods: Between 1993 and 2004, 239 patients with non metastatic nasopharyngeal carcinoma were treated by radiotherapy associated or not to chemotherapy. Radiotherapy was delivered with two modalities: hyperfractionated for 82 patients and conventional fractionation for 157 patients. We evaluated the impact of tumour stage, age, gender, radiotherapy schedule and chemotherapy on neurological toxicity., Results: After a mean follow-up of 107 months (35-176 months), 21 patients (8.8%) developed neurological complications, such as temporal necrosis in nine cases, brain stem necrosis in five cases, optics nerve atrophy in two cases and myelitis in one case. Five- and ten-year free of toxicity survival was 95 and 84% respectively. Young patients had greater risk of temporal necrosis, and hyperfractionated radiotherapy was associated with a significantly higher risk of neurological complications (14.6% vs 5.7%, p=0.02). On multivariate analysis, hyperfractionation and age were insignificant., Conclusion: Late neurological toxicity after radiotherapy for nasopharyngeal carcinoma was rare. Younger age and hyperfractionation were considered as risk factors of neurological toxicity in our study.

Aim: To determine predictive factors of mortality among children after traumatic brain injury., Methods: A retrospective study over 8 years of 222 children with severe head injury (Glasgow Coma Scale score < or = 8) admitted to a university hospital (Sfax, Tunisia). Basic demographic, clinical, biological and radiological data were recorded on admission and during intensive care unit stay., Results: The study included 163 boys (73.4%) and 59 girls, with mean age 7.54+/-3.8 years. The main cause of trauma was road traffic accident (75.7%). Mean Glasgow Coma Scale score was 6+/-1.5, mean Injury Severity Score (ISS) was 28.2+/-6.9, mean Paediatric Trauma Score (PTS) was 3.7+/-2.1 and mean Paediatric Risk of Mortality (PRISM) was 14.3+/-8.5; 54 children (24.3%) died. Univariate analysis showed that low PTS on admission, high ISS or PRISM, presence of shock or meningeal haemorrhage or bilateral mydriasis, and serum glucose > 10 mmol l(-1) were associated with mortality rate. Multivariate analysis showed that factors associated with a poor prognosis were PRISM > 20 and bilateral mydriasis on admission., Conclusions: In Tunisia, head injury is a frequent cause of hospital admission and is most often due to road traffic accidents. Short-term prognosis is poor, with a high mortality rate (24.3%), and is influenced by demographic, clinical, radiological and biological factors.