Nicoleta Panait

Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: A methamizole embryopathy?

Newborns prenatally exposed to methimazole (active metabolite of carbamizole) for maternal hyperthyroidism may present some disorders in common, but the phenotype is not well defined. Choanal atresia is the most frequent, and other anomalies such as esophageal atresia and aplasia cutis were described with this embryopathy. Additionally, patent omphalomesenteric duct or Meckels diverticulum in similar association was reported in some patients. The predisposed genetic background has to be considered. We report the case of a newborn exposed to carbamizole during the first 4 weeks of pregnancy and define an association related to prenatal methamizole exposure consisting of esophageal atresia, small omphalocele, and ileal prolapse through a patent omphalomesenteric duct.

Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion‐weighted magnetic resonance imaging with apparent diffusion coefficient determination

The objective of this study was to evaluate the accuracy of fetal diffusion‐weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV).

Management of nonparasitic splenic cysts in children: A French multicenter review of 100 cases

BACKGROUND The management of nonparasitic splenic cysts (NPSC) remains controversial. Surgical resection is indicated for symptomatic or complicated forms, but no guidelines are available for asymptomatic NPSC. The aims of this study were to evaluate the management of NPSC in French hospitals and to analyze the results of management. METHODS We conducted a retrospective multicenter study from January 2004 to December 2014 in 16 university hospitals in France. Patients with a follow-up less than 6months were excluded. Data were extracted from the medical reports. RESULTS One hundred patients were included. Median follow-up was 12.8months. No complications were observed for NPSC smaller than 5cm. The size of NPSC increased significantly between the ages of 10 and 12years. Fifteen patients were under observation; 58.3% of cysts decreased in size and 41.7% remained stable. Among the 85 operated patients, no recurrence occurred in the splenectomy group, while 11 recurrences were observed in the cystectomy group (57.9%), 3 of which required redo surgery. CONCLUSIONS Observation is a safe treatment option for asymptomatic NPSC smaller than 5cm. Surgery is indicated for symptomatic patients, and can be proposed for asymptomatic NPSC larger than 5cm. Laparoscopic partial splenectomy is the technique of choice. Follow-up must be continued until the end of puberty. LEVELS OF EVIDENCE RATING Level III.

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH.

Heterotopic pancreas without Meckel’s diverticulum in children as unique cause of gastrointestinal bleeding: think about it!

Ectopic pancreas also known as heterotopic pancreas (HP) is a rare congenital anomaly, mainly found as incidental finding during autopsy or abdominal exploration for an other condition. Incidence rate is probably underestimated as patients are mostly asymptomatic; otherwise, it is capable of producing symptoms depending on its location, size, often appearing in the 4th-to-6th decades. Complications such as inflammation, obstruction, bleeding, and malignancy degeneration must be considered. Pediatrics cases are very rare, generally concerning HP within Meckel’s diverticulum, manifesting by gastrointestinal bleeding and intussusception. We report a rare case of jejunum bleeding, due to an isolated HP in a 15-year-old adolescent. Endoscopic and computed tomographic scan were normal, in particular did not found Meckel’s diverticulum. Diagnosis and treatment have been apprehended performing a laparoscopic exploration. It is a singular location for HP, predominantly found in upper gastrointestinal tractus. So far, there have been no case reports of jejunal bleeding from ectopic pancreas without Meckel’s diverticulum in children.

SFCP CO-43 - Valeur de l’imagerie dans l’evaluation des lesions histologiques des systemes urinaires doubles

Objectif Nous avons correle les donnees de l’imagerie preoperatoire et les resultats anatomopathologiques des hemi-nephrectomies polaires (HNP) afin de savoir si il etait possible d’evaluer la morbidite previsible des lesions histologiques des systemes urinaires doubles (SUD). Patients et methodes Entre 2007 et 2013, 34 enfants ont eu une HNP pour rein detruit. Les donnees de l’imagerie preoperatoire ont ete correlees avec les donnees histologiques. Resultats Il y avait des lesions histologiques severes dans 76,5% et des lesions moderees dans 23,5%. En echographie, un amincissement cortical important a ete associe a des lesions d’inflammation interstitielle chronique severe. L’absence de rehaussement parenchymateux et/ou un amincissement cortical severe en IRM etaient significativement associes a de la fibrose interstitielle. Tous les poles non fonctionnels en uro-IRM avaient des lesions histologiques severes irreversibles (p=0.09). Conclusion L’uro-IRM est un outil diagnostic fiable et precis pour predire des lesions histologiques severes. Il s’agit d’un complement utile pour le diagnostic des SUD quand les examens standard sont non concluants surtouts chez l’enfant de moins de 6 mois.

SFCP CO-16 - Validation multicentrique et prospective du score de Samuel prédictif d’appendicite

Introduction L’objectif de notre etude a ete d’evaluer de facon prospective les performances du score PAS ( Pediatric Appendicitis Score ) precedemment publie, dans une population pediatrique tout venante. Materiel et methode Entre Mai et Octobre 2012, 1222 enfants âges de 2 a 16 ans ont ete pris en charge pour douleurs abdominales dans 8 services d’urgences pediatriques et polyvalentes de la region PACA. Resultats Sur les 619 enfants inclus pour suspicion d’appendicite aigue (appel telephonique 10 jours apres la consultation), 77(12,4%) ont ete appendicectomises (gold standard) a l’âge moyen de 10,1 ans. Le PAS etait complet pour 240 dont 61 appendicites, soit une prevalence de 25,4%. Un PAS 6, a une specificite de 96,1% (IC95%:92-98) et un RV positif a 13 (IC95%:6-28). L’aire sous la courbe ROC a ete de 0,84. Conclusion Le score de PAS ne peut pas etre retenu comme un outil referentiel pris isolement. Neanmoins, l’utilisation de ce score pour stratifier le risque qu’un enfant ait une appendicite peut aider l’urgentiste dans sa demarche diagnostique, en precisant la necessite d’une imagerie et/ou d’un avis chirurgical specialise.