Geraldine Hery

Evolution of congenital malformations of the umbilical-portal-hepatic venous system

OBJECTIVE The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. MATERIALS AND METHODS All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. RESULTS Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. CONCLUSION Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants.

Bronchogenic cyst: Clinical course from antenatal diagnosis to postnatal thoracoscopic resection

PURPOSE: The purpose of this study was to describe an approach to surgical management of bronchogenic cysts based on the natural course observed from the time of antenatal screening to surgical resection in patients treated at our institution and reported in the literature. MATERIALS AND METHODS: We retrospectively reviewed the clinical features of all children presenting bronchogenic cyst diagnosed antenatally from 2007 to 2010. A total of six children were included. RESULTS: Antenatal diagnosis was accurate in 62.5% of cases. In the first year of life, the size of the cyst remained stable in four patients, doubled in one, and increased 30% within six months in one. The indication for surgery was emphysema of the left bronchus in two patients and rapid growth in two patients. One patient is still awaiting surgery. CONCLUSION: Bronchogenic cysts grow slowly in the first months of life, but growth is exponential even in the absence of complications. We recommend complete resection before the age of two years to prevent infectious complications and facilitate surgery.

Evaluation of transcutaneous electrical posterior tibial nerve stimulation for the treatment of fecal and urinary leaks in children: Preliminary results

OBJECTIVE To examine the effectiveness of posterior tibial nerve stimulation (PTNS) for the treatment of fecal and urinary incontinence in children with malformations of the bowel or neurological pathologies. INTRODUCTION Treatment of fecal and urinary leaks, in cases of congenital malformations remains a challenge. Recent studies in adults have shown the effectiveness of PTNS. METHOD Eight children: 4 with anorectal malformations, 3 with neurological causes (1 medullary lipoma, 1 Arnold Chiari malformation, 1 sacrococcygeal teratoma) and 1 with Hirschsprungs disease presenting with serious anal incontinence, despite extensive bowel management during at least 2 years, were treated with PTNS. Six children had associated urinary leaks. Jorge-Wexner score for defecation and Schurch score for urine were used before treatment and after the second and sixth months of stimulation. RESULTS After six months, five patients had no more fecal leakage, two patients were improved and one did not respond. Five out of the 6 patients with urinary leaks were continent at 6 months. CONCLUSION PTNS is a noninvasive technique and painless modality which seems to be effective for the treatment of fecal and urinary leaks in children even with congenital digestive pathologies or neurological malformations. These results will be confirmed in a prospective study.

Congenital pouch colon: antenatal diagnosis and video-assisted management

Congenital pouch colon (CPC) is an unusual abnormality associating a pouch-like dilatation of a shortened colon with an anorectal malformation (ARM). There are few reports of CPC in Europe, a contrario it represents up to 15% of ARM in India. Coloplasty and excision are described in the surgical management. This report describes a new case of CPC. This is the first reported case with a prenatal clinical presentation as an hypoechogenic abdominal image at ultrasound and a video-assisted management.

Putative criteria for predicting spontaneous regression of prenatally diagnosed thoracoabdominal cystic lesions.

PURPOSE Cystic lesions are common findings during prenatal ultrasonography but their prenatal and postnatal prognosis is difficult to establish because of some regress spontaneously. The purpose of this study was to identify putative criteria to predict regression of partially or completely cystic lesions detected by prenatal ultrasound. METHODS Prenatal ultrasound features of thoracic or abdominal cystic lesions were retrospectively analyzed. Ovarian and urological lesions were not included in this study. RESULTS A total of 57 cystic lesions were studied. Of the 57 lesion, 36 lesions including 10 abdominal (43.5%) and 26 thoracic (76.5%) lesions required surgical resection. Of the 57 lesions, 10 persistent lesions after birth were only monitored. Eleven lesions including eight abdominal (34.7%) and three thoracic (8.8%) lesions regressed prenatally (p = 0.02). Regressing abdominal lesions consistently presented as solitary lesions with a homogenous aspect. Only one abdominal lesion showed a multilobulated aspect. Two regressing thoracic lesions were purely cystic and one lesion presented a heterogeneous aspect. CONCLUSION Regression of cystic lesions detected by prenatal ultrasound scan was more likely for lesions in abdominal (mainly adrenal or splenic lesions) than thoracic locations. The likelihood of regression was highest for purely cystic abdominal lesions.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, a clinical entity we have termed O2HE (Osteo-Oto-Hepato-enteric) syndrome. Whole exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A), as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss of function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.

Management of Polypoid Gallbladder Lesions in Children: A Multicenter Study

Abstract Introduction Polypoid lesions of the gallbladder (PLG) are relatively common in adults, while they are very rare in children. The use of high‐quality ultrasonography leads to increased detection of PLG, although less than 20 pediatric cases of primary PLG have been reported in the literature. The aim of this study was to address the experience of PLG management in children. Materials and Methods A retrospective multicenter review of children with ultrasonographically defined PLG between 2006 and 2016 was performed. The data from 12 pediatric surgery centers were compiled for this purpose. Results Eighteen patients (mean age: 10.4 ± 4.1 years) were included and managed according to each centers protocols. Cholecystectomy was performed for nine symptomatic patients. Histopathology conclusively revealed four tubular and five papillary adenomas, with a median size of 12 mm (ranging from 3 to 35 mm). Nine asymptomatic children were monitored by sonography over a 24‐month (ranging from 12 to 66 months) follow‐up period. The median PLG size was 7 mm (ranging from 3 to 9 mm). Two lesions disappeared after 1 and 2 years of follow‐up, respectively. None of the patients developed symptoms or malignant transformation. Conclusion This report confirms appropriate use of a conservative approach with annual clinical and ultrasound follow‐up for small‐sized and isolated PLG in children given the absence of malignancy and potential vanishing entities. Surgical treatment should be considered in case of lesions larger than 10 mm in size or when they are associated with symptoms.

Congenital lung malformations: correlation between prenatal and postnatal imaging and pathological findings

AimCongenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after surgical resection. Materials and methodsPrenatal examinations and postnatal CT scan results of congenital malformations were compared with pathological findings. ResultsFrom 2007 to 2013, 39 prenatally diagnosed congenital lung malformations were resected: 18 congenital cystic adenomatoid malformation, eight pulmonary sequestration, five bronchogenic cyst, one bronchial atresia and six complex lesions. Correlation between imaging and diagnosis was as follows: congenital cystic adenomatoid malformation was seen in 17/17 patients using postnatal CT, in 10/15 patients using prenatal MRI and in 17/18 patients using prenatal US. Correlation between imaging and diagnosis was as follows: bronchogenic cyst was seen in 3/5, 3/5 and 3/5 patients, pulmonary sequestration was seen in 7/9, 5/9 and 4/9 patients, and complex lesion was seen in 4/5, 3/6, and 2/6 patients using postnatal CT, prenatal MRI, and prenatal US, respectively. Overall, 32/37 cases were diagnosed by means of postnatal CT, 21/36 cases were diagnosed by means of prenatal MRI and 26/39 cases were diagnosed by means of prenatal US. ConclusionDiscordance between imaging data and definitive diagnosis is not rare. Our results suggest that postnatal CT scan is the most sensible and specific examination. Before birth, US seems better compared with MRI for description of the lesion. MRI seems to be useful in case of complex lesions and pulmonary sequestration.

SFCP P-070 - Aplasie vaginale et utérus fonctionnel : quel traitement chirurgical conservateur ?

Objectifs Les aplasies vaginales avec uterus fonctionnel sont rares. Le col uterin est soit normal soit atretique. La retention uterine est responsable de douleurs pelviennes intenses, cycliques chez des jeunes filles en âge pubere et presentant une amenorrhee primaire. La prise en charge therapeutique doit permettre la reconstitution d’une filiere vagino-uterine normale. L’instauration d’une amenorrhee therapeutique doit etre la regle afin de realiser un bilan morphologique precis et de preparer la jeune fille a la chirurgie Sujet / materiels et methodes 3 jeunes filles (13 ans) presentant une aplasie vaginale avec uterus fonctionnel (sans malformation renale) ont ete operees. 2 patientes presentaient une aplasie des 2/3 inferieurs du vagin et une patiente presentait une agenesie complete du vagin. La reconstruction vaginale a ete effectuee selon des techniques differentes en fonction de la hauteur de l’aplasie et evaluee par IRM. Conclusions La prise en charge des grandes aplasies vaginales est difficile et necessite la maitrise de l’ensemble des techniques chirurgicales. L’existence d’un uterus fonctionnel impose une prise en charge relativement rapide dans un contexte psychologiquement difficile.

SFCP-P38 – Chirurgie viscérale – Résultats de la toxine botulique dans l’hypertonie sphinctérienne résiduelle de la maladie de Hirschsprung

Objectifs L’hypertonie sphincterienne (HS) post operatoire dans la maladie de Hirschsprung (MH) est frequente. Elle peut entrainer constipation severe et/ou enterocolites iteratives. Nous avons evalue au cours d’une etude retrospective clinique les resultats de l’injection intra-sphincterienne de la toxine botulique (TB) sur cette hypertonie. Sujets De 2004 a 2007,13 enfants operes d’une MH (2 Duhamel, 4 Swenson et 7 Swensons transanaux) et presentant des troubles digestifs (groupe 1 : enterocolites iteratives, groupe 2 : constipation severe avec fuites fecales) associes a une HS clinique (toucher rectal) ou manometrique ont beneficie d’une injection intra-sphincterienne de TB. La TB est injectee a 4UI/Kg en 4 quadrants, a la partie superieure du sphincter externe sous anesthesie generale, apres reperage par neurostimulation. Les resultants ont ete evalues selon des criteres cliniques : ballonnement, consistence et odeurs des selles, fuites fecales, apparition de selles spontanees, et acquisition de la proprete. Resultats Le groupe 1 (recul moyen : 25 mois) reunit 8 enfants (2 MH pancoliques), avec un âge moyen a la premiere injection de 4 ans (1- 8 ans). Apres 2 injections de TB, aucun n’a plus presente d’enterocolites, la moitie d’entre eux necessitaient encore une aide a l’exoneration. Cinq d’entre eux ont necessite de 1 a 4 injections supplementaires (delai moyen entre 2 injections : 6 mois). Au final, ces 8 enfants ont acquis la proprete avec des selles spontanees de consistance normale. Le groupe 2 (recul moyen : 15 mois) reunit 5 enfants avec un âge moyen a la premiere injection de 8,5 ans (2,5-15 ans). Apres la premiere injection, 4 enfants sur 5 n’ont plus presente de fuites et ont obtenu des selles spontanees. Des reinjections ont ete necessaires pour 3 d’entre eux. Un enfant necessite encore un support medical. Aucune complication n’a ete notee. Conclusion L’injection de TB semble une technique efficace et peu invasive pour lever l’hypertonie sphincterienne residuelle apres cure de MH. La TB a permis une amelioration des symptomes cliniques et un allegement du traitement medicamenteux au seul prix d’une repetition de ces injections. Une etude prospective manometrique est en cours.