Christian Piolat

Esophageal atresia: Data from a national cohort

PURPOSE A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan. METHODS All 38 national centers treating EA participated by completing for each patient at first discharge a questionnaire validated by a national committee of experts. Data were centralized by the national reference center for esophageal anomalies. Quantitative and qualitative analyses were performed, with P-values of less than 0.05 considered statistically significant. Results of the 2008-2009 data collection are presented in this report. RESULTS Three hundred seven new living cases of EA were recorded between January 1, 2008, and December 31, 2009. The male/female sex ratio was 1.3, and the live-birth prevalence of EA was 1.8 per 10,000 births. Major characteristics were comparable to those reported in the literature. Survival was 95%, and no correlation with caseload was noted. CONCLUSIONS Epidemiologic surveys of congenital anomalies such as EA, which is a rare disease, provide valuable data for public health authorities and fulfill one important mission of reference centers. When compared with previous epidemiological data, this national population-based registry suggests that the incidence of EA remains stable.

Neuroblastomes localisés du nouveau-né : 52 cas traités de 1990 à 1999

UNLABELLED Neuroblastoma is the most frequent tumor observed in the newborn. The aim of this study was to review clinical features, treatment and outcome of newborns diagnosed with a localized neuroblastoma. POPULATION AND METHODS Data from 52 cases treated according to the NBL 90 and 94 protocols between 1990 and 1999 in 18 French centers of pediatric oncology were analyzed. RESULTS The median age at diagnosis was 12 days (range 0-28) with antenatal detection in 14 patients (27%). Tumor location was abdominal in 40 patients (adrenal in 20 of the 40), thoracic in eight, pelvic in three, and cervical in one. N-myc amplification was observed in one out of 40 evaluable cases. The size of the primary tumor was less than 5 cm in 25 cases, between 5 and 10 cm in 25 and more than 10 cm in two. Dumbbell tumor was observed in seven, of whom five had neurological deficit. One child died from hemorrhage after fine needle biopsy during diagnostic procedure. Primary surgical resection was attempted in 37 infants, of whom two died of surgery related complications and three had nephrectomy. Tumor was deemed as unresectable in 14 patients, and primary chemotherapy was given followed by surgical excision in 12. One of them died a few days after the beginning of chemotherapy. As a whole, continuous complete remission was achieved in 48 children, four of them after relapse. Overall survival was 92% with a median follow-up of 46 months (0-113 months). CONCLUSION The excellent prognosis of localized NB in neonates needs very restrictive surgical indications, with well-established anatomic and imaging criteria. Indeed, chemotherapy based on weight and managed by expert teams should allow to perform surgical excision in safer conditions for unresectable tumors.

Mémoire originalNeuroblastomes localisés du nouveau-né : 52 cas traités de 1990 à 1999Neonatal localized neuroblastoma: 52 cases treated from 1990 to 1999☆

UNLABELLED Neuroblastoma is the most frequent tumor observed in the newborn. The aim of this study was to review clinical features, treatment and outcome of newborns diagnosed with a localized neuroblastoma. POPULATION AND METHODS Data from 52 cases treated according to the NBL 90 and 94 protocols between 1990 and 1999 in 18 French centers of pediatric oncology were analyzed. RESULTS The median age at diagnosis was 12 days (range 0-28) with antenatal detection in 14 patients (27%). Tumor location was abdominal in 40 patients (adrenal in 20 of the 40), thoracic in eight, pelvic in three, and cervical in one. N-myc amplification was observed in one out of 40 evaluable cases. The size of the primary tumor was less than 5 cm in 25 cases, between 5 and 10 cm in 25 and more than 10 cm in two. Dumbbell tumor was observed in seven, of whom five had neurological deficit. One child died from hemorrhage after fine needle biopsy during diagnostic procedure. Primary surgical resection was attempted in 37 infants, of whom two died of surgery related complications and three had nephrectomy. Tumor was deemed as unresectable in 14 patients, and primary chemotherapy was given followed by surgical excision in 12. One of them died a few days after the beginning of chemotherapy. As a whole, continuous complete remission was achieved in 48 children, four of them after relapse. Overall survival was 92% with a median follow-up of 46 months (0-113 months). CONCLUSION The excellent prognosis of localized NB in neonates needs very restrictive surgical indications, with well-established anatomic and imaging criteria. Indeed, chemotherapy based on weight and managed by expert teams should allow to perform surgical excision in safer conditions for unresectable tumors.

Very early prophylactic thyroid surgery for infants with a mutation of the RET proto-oncogene at codon 634: evaluation of the implementation of international guidelines for MEN type 2 in a single centre

Objective  Genetic diagnosis available since 1993 established germinal mutations of the RET proto‐oncogene at codon 634 as the main cause of inherited medullary thyroid carcinoma (MTC). International guidelines established in 1999 recommend that children with such mutations undergo a total thyroidectomy before age 5, with unspecified cervical neck dissection. Since 1993, only 41 of 275 thyroidectomies reported in RET 634 children were performed before age 5 (15%). The aim of this study was to evaluate the implementation of these guidelines in a single centre.

Perforated tubular duplication of the transverse colon: a rare cause of meconium peritonitis with prenatal diagnosis.

The transverse colon is an exceptional location of intestinal duplication. Perforated duplications are rarely described in neonates. Meconium peritonitis (MP) can originate from prenatal perforated intestinal duplication. The authors report a case of a baby girl with prenatal diagnosis of MP. Rapid worsening of clinical aspects at birth and the presence of a pneumoperitoneum on systematic abdominal plain radiographs led to urgent surgery on the 1st day of life. Laparotomy showed a perforated necrotizing tubular duplication of the transverse colon. Removal of the duplication followed by limited segmental colonic resection and double colostomy were carried out. Follow-up was uneventful.

Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia

OBJECTIVE Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA. STUDY DESIGN We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III. We defined a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and death at 1 year. RESULTS Four hundred sixty-nine live births with EA were recorded with a prenatal diagnosis rate of 24.3%; 82.2% of EA type I were diagnosed prenatally compared with 17.9% of EA type III (P < .001). Transfer after birth was lower in case of prenatal diagnosis (25.6% vs 82.5%; P < .001). The delay between birth and first intervention did not differ significantly among groups. The defect size was longer among the prenatal diagnosis group (2.61 vs 1.48 cm; P < .001). The composite variables were higher in prenatal diagnosis subset (44% vs 27.6%; P = .003) and in EA type I than in type III (58.1% vs 28.3%; P < .001). CONCLUSION Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity rate related to the EA type (type I and/or long gap). Even though it does not modify neonatal treatment and the 1-year outcome, prenatal diagnosis allows antenatal parental counselling and avoids postnatal transfers.

Imagerie thoracique en urgence chez l'enfant.

Resume Les urgences pediatriques thoraciques sont frequentes et les etiologies sont nombreuses comprenant les pathologies traumatiques et les pathologies non traumatiques, notamment les corps etrangers inhales, les tumeurs mediastinales, les infections pulmonaires, l’asthme, les pneumothorax et les malformations congenitales de revelation tardive. Les urgences necessitent un diagnostic rapide pour la mise en place d’un traitement et, dans la plupart des cas, la radiologie joue un role essentiel. La radiographie standard reste l’examen de premiere intention avec des cliches en inspiration. Dans certaines situations, la realisation de cliches en expiration est indispensable. L’echographie est l’exploration initiale pour l’etude des epanchements pleuraux. La tomodensitometrie (TDM), avec les acquisitions volumiques et des temps d’acquisition rapides, est capable de visualiser les poumons et le mediastin avec une excellente resolution spatiale chez l’enfant. La TDM fournit plus d’informations que la radiographie thoracique. Ceci explique les indications croissantes de la TDM dans l’evaluation des urgences thoraciques de l’enfant, notamment pour les urgences traumatiques.

Inguinal hernia in premature boys: Should we systematically explore the contralateral side?☆ , ☆☆

OBJECTIVE Bilateral surgery has been largely advocated in premature boys with unilateral inguinal hernia owing to the high incidence of contralateral patent processus vaginalis. Recently, the potential morbidity of herniotomy in low birth-weight babies and the progress in pediatric anesthesia questioned this attitude. This study aims to evaluate the incidence of contralateral metachronous hernia in a large series of premature boys and to compare the morbidity of preventive versus elective surgery. METHODS This retrospective multicenter analysis of 964 premature boys presenting with unilateral inguinal hernia operated from 1998 to 2012 included 557 infants who benefited from a unilateral herniotomy and 407 from a bilateral herniotomy (median follow-up 12months). RESULTS Contralateral metachronous hernia after unilateral surgery occurred in 11% (n=60) without significant difference according to the initial symptomatic side (9.5% on right vs 13% on left, p>0.05). Postoperative morbidity on the contralateral side was higher after preventive surgery than elective surgery with metachronous hernia (2.45% versus 0.9%, p=0.05) especially for secondary cryptorchidism (1% vs 0%, p=0.03). Despite the risk of metachronous incarcerated hernia, elective surgery did not increase the rate of testicular hypotrophy on the opposite side (0.7%, vs 0.7%, p>0.05). CONCLUSION Systematic bilateral herniotomy is unnecessary in almost 90% of patients and has a significant morbidity. Secondary surgery for metachronous hernia does not increase the risk of testicular lesion and even reduces the risk of secondary cryptorchidism. These results, along with the risk of hypofertility reported after bilateral surgery, may justify treating only the symptomatic side in premature boys.

Polyorchidie chez l’enfant (à propos d’un cas avec revue de la littérature)

Resume La polyorchidie est une anomalie genito urinaire definie par la presence de plus de deux testicules confirmee histologiquement. Cette anomalie est extremement rare, une centaine de cas mondiaux ont ete decrits dans la litterature. Bien qu’elle puisse rester asymptomatique, la polyorchidie est souvent associee a la pathologie du canal peritoneo vaginal chez l’enfant (hernie, hydrocele) et a des troubles de la migration testiculaire. La revue de la litterature retrouve des cas de polyorchidie reveles par une torsion testiculaire et un risque accru de greffe tumorale et d’infertilite chez ces patients. Nous rapportons l’observation d’un adolescent de 14 ans, chez qui une masse testiculaire gauche douloureuse a conduit a une exploration chirurgicale et a permis de porter le diagnostic histologique de polyorchidie. A travers cette observation, les auteurs decrivent brievement les differents aspects pathologiques et therapeutiques de la polyorchidie, avec revue de la litterature.

Mixed epithelial and stromal renal tumour in a 12-year-old boy

Mixed epithelial and stromal tumour of the kidney (MESTK) is a rare kidney neoplasm that occurs almost exclusively in perimenopausal women. Long-term oestrogen replacement appears to play a major role in its pathogenesis. Around 70 cases have been described in the international literature, none of which involve male children. Herein, we describe an atypical case of MESTK diagnosed in a 12-year-old prepubertal boy who presented with hematuria. Pathology and immunohistochemistry revealed a typical MESTK. The child was free of disease at 2-year follow up after a partial nephrectomy and tumour excision.