[Does prenatal diagnosis modify neonatal management and early outcome of children with esophageal atresia type III?]. / Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l'œsophage de type III ?

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.

[Maternal-fetal surgery for spina bifida: future perspectives]. / La chirurgie maternofœtale du spina bifida : perspectives d'avenir.

Open spina bifida or myelomeningocele (MMC) is a frequent congenital abnormality (450 cases per year in France) associated with high morbidity. Immediate postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, treating hydrocephalus with a ventricular shunt. MMC surgical techniques haven't achieved any major progress in the past decades. Numerous experimental and clinical studies have demonstrated the MMC "two-hit" hypothetic pathogenesis: a primary embryonic congenital abnormality of the nervous system due to a failure in the closure of the developing neural tube, followed by secondary damages of spinal cord and nerves caused by long-term exposure to amniotic fluid. This malformation frequently develops cranial consequences, i.e. hydrocephalus and Chiari II malformation, due to leakage of cerebrospinal fluid. After 30 years of research, a randomized trial published in February 2011 proved open maternal-fetal surgery (OMFS) for MMC to be a real therapeutic option. Comparing prenatal to postnatal surgery, it confirmed better outcomes of MMC children after a follow up of 2.5 years: enhancement of lower limb motor function, decrease of the degree of hindbrain herniation associated with the Chiari II malformation and the need for shunting. At 5 years of age, MMC children operated prenatally seems to have better neurocognitive, motor and bladder-sphincter outcomes than those operated postnatally. However, risks of OMFS exist: prematurity for the fetus and a double hysterotomy at approximately 3-month interval for the mother. Nowadays, it seems crucial to inform parents of MMC patients about OMFS and to offer it in France. Future research will improve our understanding of MMC pathophysiology and evaluate long-term outcomes of OMFS. Tomorrow's prenatal surgery will be less invasive and more premature using endoscopic, robotic or percutaneous techniques. Beforehand, Achilles' heel of maternal-fetal surgery, i.e. preterm premature rupture of membranes, preterm labor and preterm birth, must be solved.

Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review.

Pulmonary agenesis is a rare congenital malformation of lung development defined as complete absence of lung tissues, bronchi, and pulmonary vessels; it may be uni- or bilateral. The right-sided form carries the poorest prognosis due to severity of co-existent anomalies. Its diagnostic circumstances are variables: first reported cases were diagnosed at autopsy, but early postnatal as well as fortuitous discovery have been reported. In recent years, progress in obstetrical imaging has made antenatal diagnosis possible so that fetal ultrasound and MRI allow early diagnosis and refinement by permitting the elimination of differential diagnoses (diaphragmatic hernia, cystic adenomatoid malformation of the lung, giant lobar emphysema, and situs inversus). This anomaly is compatible with normal life provided co-existent malformations are thoroughly investigated and managed in a multidisciplinary setting. We report four cases of lung agenesis two of which were diagnosed antenatally at 23rd and 30th weeks of gestation respectively. Our aim is to describe the circumstances having led to diagnosis and report both follow-up and outcome of our patients.

[Cryptorchidism: guidelines for surgical management]. / Ectopie testiculaire et cryptorchidie ; de quoi parle-t-on ? Indications opératoires.

Cryptorchidism is one of the commonest congenital anomalies in the male genitalia, affecting 3 to 5% of male full-term neonates. It is a known cause of infertility associated with a greater risk of development of germ cell tumor. The benefits of early orchidopexy include psychological affects, prevention of testicular degeneration and decrease in the risk of testicular cancer. Laparoscopy is the best way to diagnose and manage intra-abdominal testes.

Animal models of REM dysfunctions: what they tell us about the cause of narcolepsy and RBD?

Rapid eye movement sleep behavior disorder (RBD) is a parasomnia characterized by the loss of muscle atonia during paradoxical (REM) sleep (PS). Conversely, cataplexy, one of the key symptoms of narcolepsy, is a striking sudden episode of muscle weakness triggered by emotions during wakefulness, and comparable to REM sleep atonia. The neuronal dysfunctions responsible for RBD and cataplexy are not known. In the present review, we present the most recent results on the neuronal network responsible for PS. Based on these results, we propose an updated integrated model of the mechanisms responsible for PS and explore different hypotheses explaining RBD and cataplexy. We propose that RBD is due to a specific degeneration of a subpopulation of PS-on glutamatergic neurons specifically responsible of muscle atonia, localized in the caudal pontine sublaterodorsal tegmental nucleus (SLD). Another possibility is the occurrence in RBD patients of a specific lesion of the glycinergic/GABAergic premotor-neurons localized in the medullary ventral gigantocellular reticular nucleus. Conversely, cataplexy in narcoleptics would be due to the activation during waking of the caudal PS-on SLD neurons responsible for muscle atonia. A direct or indirect pathway activated during positive emotion from the central amygdala to the SLD PS-on neurons would induce such activation. In normal conditions, the activation of SLD neurons would be blocked by the simultaneous excitation by the hypocretins of the PS-off GABAergic neurons localized in the ventrolateral periaqueductal gray and the adjacent deep mesencephalic reticular nucleus gating the activation of the PS-on SLD neurons.

Functional gait analysis of trans-femoral amputees using two different single-axis prosthetic knees with hydraulic swing-phase control: Kinematic and kinetic comparison of two prosthetic knees.

This paper reports a comparison of the gait patterns of trans-femoral amputees using a single-axis prosthetic knee that coordinates ankle and knee flexions (Proteor's Hydracadence system) with the gait patterns of patients using other knee joints without a knee-ankle link and the gait patterns of individuals with normal gait. The two patient groups were composed of 11 male trans-femoral amputees: six patients had the Hydracadence joint (Group 1) and five patients had other prosthetic knees (Group 2). The reference group was made up of 23 normal volunteers (Group 3). In this work, trunk, hip, knee, and ankle 3-D motion was assessed using the VICON system. Kinetic data were collected by two AMTI force plates, and the knee moment was calculated via the 3-D equilibrium equations. An original questionnaire was used to assess the participants' activity level and clinical background. The results reveal that, during stance, all knee types guaranteed security. After heel strike, the plantar flexion of the ankle enabled by the Hydracadence prosthesis seems to increase stability. During swing phase, hip and knee sagittal motion was nearly the same in both Group 1 and Group 2. By contrast, hallux and sole vertical positions were significantly higher in Group 1 than in Group 2; thus, it seems the link between the ankle joint and the knee joint makes foot clearance easier. No alteration of the lateral bending of the trunk was observed. The protocol proposed in this paper allows a functional comparison between prosthetic components by combining clinical data with objective 3-D kinematic and kinetic information. It might help to determine which prosthetic knees are best for a specific patient.

Bone mineral density assessment using the EOS low-dose X-ray device: a feasibility study.

To predict bone strength in the case of osteoporosis, it could be a real benefit to assess the three-dimensional (3D) geometry and the bone mineral density (BMD) with a single low-dose X-ray device, such as the EOS system (Biospace Med, Paris, France). EOS 3D reconstructions of the spine have already been validated. Thus, this study aims at evaluating the accuracy of this low-dose system as a densitometer first ex vivo. The European Spine Phantom (ESP) (number 129) was scanned ten times using both the EOS and a Hologic device (Hologic, Inc., Massachusetts, USA). Accuracy was given by the sum of the systematic error (difference between BMDs assessed and true values given by the phantom manufacturer) and the random error (coefficient of variation). EOS BMDs and Hologic BMDs of 41 ex-vivo vertebrae were calculated and compared. The reproducibility of the method evaluating the EOS BMD was assessed giving the coefficient of variation of three measurements of the 41 vertebrae. The accuracy of the EOS system is below 5.2 per cent, versus 7.2 per cent for the Hologic system in the same conditions. EOS BMDs are significantly higher than Hologic BMDs, but they are strongly correlated. The reproducibility of the method of assessment is equal to 0.95 per cent. The EOS system is accurate for ex-vivo BMD assessments, which is promising regarding the use of this new system to predict vertebral strength.

Transanal coloanal anastomosis for Hirschsprung's disease: comparison between endorectal and perirectal pull-through procedures.

BACKGROUND/PURPOSE: The aim of this study was to compare the results of 2 procedures of transanal pull-through for the management of rectosigmoid Hirschsprung's disease. METHODS: Twenty-one consecutive children with rectal or rectosigmoid Hirschsprung's disease were operated on between November 1999 and April 2003, in two pediatric surgical departments (Dijon and Strasbourg). Twelve children underwent a transanal perirectal pull-through procedure (TPR) and 9 had a transanal endorectal (Soave) pull-through procedure (TER). The collected data in each group included demographic data, length of aganglionosis, age and weight at operation, operating time, duration of hospital stay, incidence of postoperative complications (sepsis, enterocolitis, stricture) and quality of fecal continence on long-term follow-up. RESULTS: No significant differences were observed between the TPR and TER groups with respect to mean age at presentation, length of aganglionosis (rectosigmoid in 10/12 and 8/9 patients respectively), age at operation, with seventeen children operated on before one year of age (mean 3.8 and 3.3 months, respectively) and duration of hospital stay (5.2 vs. 5.3 days), frequency of bowel movements at 3 months postoperatively (1 - 3 per day). Mild differences were observed between TPR and TER groups for gender (ratio M : F 5 : 1 vs. 2 : 1), gestational age at term (39 vs. 37.5 weeks), birth weight (3240 g vs. 2520 g) and operating time (116 min vs. 138 min). No iatrogenic injury of the surrounding pelvic structures occurred during surgery and no blood transfusion was required in either of the groups. A retrorectal pelvic abscess was found in one child of the TPR group. It resolved after an enterostomy had been performed with parenteral antibiotics. Anal dilatation for postoperative anorectal stricture was required in 3 and 2 patients, respectively, for the TPR and TER groups. A mild postoperative enterocolitis developed in one case in the TER group. The average follow-up period was 35.3 months, but ten children still wear diapers, making a functional evaluation difficult. Constipation was noted in 4 and 3 patients, respectively, for the TPR and TER groups. No permanent soiling has been noted at long-term follow-up. CONCLUSION: As an objective assessment of fecal continence could not yet be done for this short series, further follow-up is required. Up to now, no significant difference was observed between these two transanal pull-through procedures.

[Our experience in "ad libitum" feeding after pyloromyotomy (review of 97 cases)]. / Sténose hypertrophique du pylore: comparaison entre deux protocoles de réalimentation postopératoire : "progressif " et "ad libitum".

UNLABELLED: A recent alternative feeding regimen at the progressive feeding (PF) after a pyloromyotomy for hypertrophic pyloric stenosis (HPS) is the so-called ad libitum feeding (AL). The aim of this study was to determine if this new feeding regimen has modified the follow-up of postoperative course in HPS. POPULATION AND METHODS: From January 1998 to December 2003, 97 consecutive neonates have been operated on for HPS in our hospital. This retrospective study was based on the comparison between two groups of patients with different postoperative feeding regimens: group one of 30 neonates with PF regimen and group two of 60 neonates with AL regimen. Seven remaining neonates had had a mucosal perforation and were not included in this comparative study but in a separate group (MP). The clinical, ultrasonographic, operative and postoperative data were compared. RESULTS: There was no difference between the PF and AL groups for sex ratio M/F=4/1, preoperative weight loss ratio, ultrasonographic data and intra-operative difficulties rate. A small difference was found - which was not significative - between the PF and the AL groups for median age at diagnosis (44,6 v 36,7 days, respectively). A statistically significative difference between the PF and the AL groups was observed for time to establish feeding (69 vs 35.6 hours, respectively) (P<0,001), postoperative stay (4.16 vs 2.98 days, respectively) (P<0,001) and total hospital charges. We didn't found any difference in the incidence and severity of postoperative emesis whether slow (PF) or rapid (AL) feeding regimens were used. Furthermore, intra-operative mucosal tear didn't influence postoperative course and the duration of hospital stay. CONCLUSION: We recommend AL regimen for routine feeding in simple cases after pyloromyotomy for HPS. It has a positive impact on length of hospital stay, and decreases hospital charges. Most neonates with MP can be managed with a rapid feeding regimen.

[Acute appendicitis in children: is there an histo-clinical correlation?]. / Appendicite aiguë de l'enfant: le classique "absence de parallelisme anatomoclinique": un mythe?

Diagnosis of appendicitis in children represents a continuing diagnostic dilemma for emergency room physicians and paediatric surgeons. If unnecessary surgery should be avoided, delayed diagnosis and treatment of appendicitis is responsible for complications. Use of a diagnostic clinical score may improve the management of children with abdominal pain. A prospective evaluation of an appendicitis score is presented here.

Gastric outlet obstruction by an antral mucosal diaphragm: a case of a congenital anomaly revealed by an acquired disease.

Congenital antral membrane may become symptomatic early in life or late in childhood. A gastric outlet obstruction was revealed in a 14-month-old girl, previously developing well until 3 days ago, by melaena and recurrent non-bilious vomiting, after administration of a non-steroidal anti-inflammatory drug for fever. Plain X-ray performed during the neonatal period was normal. Despite ultrasonography, contrast radiography and endoscopy, the correct diagnosis was made at surgery; the obstruction was due to an inflammatory, thickened membrane with mucosal oedema reducing the central aperture of the diaphragm. This case emphasizes that if antral membrane diaphragm is congenital, the onset of symptoms may result from an additional acquired lesion.

Antenatal detection of a communicating duodenal duplication.

We report a case of a subhepatic cystic mass diagnosed in utero by antenatal ultrasonography (US) at 15 weeks' gestation which subsequently proved to be a communicating duodenal duplication. In this male foetus, the differential diagnosis was choledochal cyst, congenital biliary atresia, foregut duplication or omentum cyst. Neonatal US examination lead to a diagnosis of duodenal duplication, also confirmed by barium gastrointestinal series. He was operated on day 8 and recovered uneventfully. We discuss the accuracy of antenatal US in the diagnosis of such right upper quadrant cystic masses. Now that antenatal findings are becoming increasingly sensitive in the detection of foetal anomalies, and parents need to be informed about the suspected pathology and its prognosis, we tried to determine, in the light of this case and a review of the literature, how antenatal US findings can offer more accuracy in the diagnosis of duodenal duplication.

Diagnostic and therapeutic dilemma with large prenatally detected cystic adrenal masses.

OBJECTIVES: The prenatal finding of a large cystic adrenal mass raises the dilemma of the differential diagnosis between adrenal hemorrhage and cystic neuroblastoma. The possibility of a neuroblastoma usually leads to surgical excision of such tumors. Nevertheless, an adrenal hemorrhage has to be recognized, so that unnecessary surgery may be avoided. METHODS: Three cases of large prenatally detected adrenal masses managed nonoperatively are reported. Data studied were: age at the diagnosis, prenatal and postnatal ultrasonographic consistency, and tumor marker levels. Size and sonographic evolution were also studied. RESULTS: In all 3 cases, a cystic mass, measuring more than 40 mm in size, was detected during the 3rd trimester of pregnancy. The sonographic appearance evolved from a sonolucent tumor to a heterogeneous mass with hyperechoic areas. The tumor marker levels were normal. All infants had a documented decrease in mass size at birth and were managed nonoperatively. All these tumors were considered adrenal hemorrhages. CONCLUSIONS: Prenatal ultrasonography rarely permits to distinguish an adrenal hemorrhage from a cystic neuroblastoma. The differential diagnosis, even in large masses, is based on close postnatal follow-up with serial sonography. Surgery is not mandatory, unless the size does not decrease. However, without pathologic proof, it is not possible to differentiate an adrenal hemorrhage from a spontaneously resolved neuroblastoma.

Iatrogenic pharyngoesophageal perforation in premature infants.

BACKGROUND: Premature infants are particularly at risk of iatrogenic pharyngoesophageal perforation. It is a rare occurrence but when it does occur it often mimics esophageal atresia. In the light of 10 patients treated in our service and those reported in the literature we have highlighted the diagnostic difficulties and discussed the appropriate management. PATIENTS: Between 1980 and 1995, we treated 10 premature neonates for pharyngoesophageal perforation. Six of these neonates weighed less than 1500 g. Esophageal atresia was the primary diagnosis in 4 cases. The pharyngoesophageal perforation was caused by repeated airway intubation in 3 cases and by overenthusiastic routine postpartum suctioning or nasogastric tube (NGT) insertion in 7 others. Severe respiratory distress occurred in 7 neonates. A plain chest x-ray revealed a large right pneumothorax in 3 cases and an aberrant NGT in 3 other cases. Four neonates had a contrast esophagography and 4 neonates underwent endoscopy. Five cases were treated surgically. In 3 of these, esophageal atresia was the presumptive diagnosis and the perforation was only diagnosed intraoperatively via a right thoracotomy. One neonate required suturing of the perforation and another had a gastrostomy. In all 5 cases a mediastinal drain was left in situ. The 5 remaining neonates were treated conservatively with broad spectrum antibiotics, total parenteral nutrition, a silastic NGT and pharyngeal aspiration. One of these neonates had previously had a laparotomy for a colonic perforation. There was a good outcome in 4 neonates, one of whom required instrumental dilatation for an esophageal stricture. Bronchopulmonary dysplasia developed in 3 cases and necrotizing enterocolitis in 1 other case. Two neonates died. CONCLUSION: An iatrogenic perforation is often difficult to diagnose and can easily be confused with esophageal atresia. Clinical findings, a plain chest x-ray, an esophagography and endoscopy are helpful. Surgery can be avoided in most instances. The outcome is not always favorable especially as premature neonates are at risk of severe concomitant pathology.

Transabdominal amnioinfusion to avoid fetal demise and intestinal damage in fetuses with gastroschisis and severe oligohydramnios.

BACKGROUND/PURPOSE: Despite dramatic improvement in survival rate for neonates with gastroschisis, significant postoperative morbidity and a low mortality rate still occur. Furthermore, even in recent publications, some fetal death has been reported. Does this mean that antenatal diagnosis of gastroschisis is a missed opportunity? In fact, decreased amniotic fluid (AF) volume is observed in some fetuses with gastroschisis. However, oligohydramnios is associated with an increased risk of fetal suffering. When severe oligohydramnios is observed, intrapartum amnioinfusion, to restore AF volume, may help avoid fetal complications. METHODS: Two fetuses with gastroschisis and severe oligohydramnios were treated antenatally with amnioinfusion of saline solution. In one case, fetal heart beat decelerations were observed at 27 weeks' gestation among with the oligohydroamnios and serial transabdominal amnioinfusions were performed. In the second case, severe oligohydramnios was observed at 31, weeks and an amnioinfusion was performed. The 2 babies were delivered at 31 and 34 weeks, respectively. RESULTS: In both cases, exteriorized bowel was nearly normal at birth, and primary closure could be performed. Outcome was favorable, and they were discharged home on day 43 and day 54, respectively. CONCLUSIONS: Because fetuses with gastroschisis and oligohydramnios are part of a particular high-risk group, serial ultrasound examination and computerized fetal heart beat monitoring are necessary during the third trimester. In selected cases of gastroschisis associated with severe oligohydramnios, serial amnioinfusion may be required.

Conservative intestinal surgery to avoid short-bowel syndrome in multiple intestinal atresias and necrotizing enterocolitis: 6 cases treated by multiple anastomoses and Santulli-type enterostomy.

Neonates with multiple sites of intestinal atresia (MIA) may be predisposed to short-gut syndrome. Anastomoses of the intervening segments may prevent this complication. 5 neonates with MIA, one of them with a gastroschisis, were operated on: a proximal enterostomy was constructed, a side-to-end anastomosis as described by Santulli and several end-to-end anastomoses between the intervening intestinal segments (n = 3 to 7) were performed. An additional infant, initially operated on for a necrotizing enterocolitis (NEC) was managed with the same surgical procedure. Without use of this technique, the remaining length of small intestine would have been 28, 27, 40, 58, 70 and 7 cm. This technique enabled an intestinal length of 49, 54, 96, 107, 92 and 93 cm respectively to be achieved. Ileocecal valve was present in all 5 cases with MIA, but resected in the case with NEC. The enterostomy was reversed 7 weeks later. The initial outcome (delay of enteral feeding, duration of parenteral nutrition) was good: the babies were weaned from parenteral nutrition (PN) after a mean time of 90 days (48 to 163 days). The prognosis (mean follow-up: 31 months, range 14 to 57) was good with regards to growth and development and length of time required before adaptation to normal enteral feedings and stools. This surgical method allows complete decompression of the proximal jejunum so that nutriment can pass into the distal bowel allowing it to enlarge. In cases of MIA, a long tapering proximal enteroplasty is a better procedure than resecting more than 5-10 cm of the proximal distended and hypertrophied bowel. We prefer to perform an enterostomy in association with multiple anastomoses between intervening intestinal segments. The enterostomy is preserved for long enough waiting period to enable the reversion of the histochemical and morphological changes that may have taken place in the bowel.

[Traumatic pharyngoesophageal perforation in newborn infants]. / Perforation pharyngooesophagienne traumatique du nouveau-né.

BACKGROUND: Neonatal perforation of the esophagus appears to occur rarely and often can mimic esophageal atresia. This report presents 12 cases of pharyngoesophageal perforation with a review of the literature. PATIENTS: From 1980 to 1995, we treated 12 infants for pharyngo-esophageal perforation. Ten infants were pre-term, seven of them weighing less than 1,500 g. Five infants had severe respiratory distress. Four infants had repeated attempt on intubation of the airway and eight infants had a routine postpartum suctioning and gastric aspiration. On plain X-ray, a large right pneumothorax was observed in three cases and the nasogastric tube deviated widely from its expected course in three cases. Four infants underwent contrast esophagography and three infants esophagoscopy. In five cases esophageal atresia was the initial diagnosis. Five infants underwent a thoracotomy. A gastrostomy was performed in one case. The six remaining neonates were treated non-operatively: broad spectrum antibiotics, total parenteral nutrition, and silastic nasogastric tube. Follow-up was uneventful in five cases. One infant with an esophageal stricture underwent instrumental dilatation. Bronchopulmonary dysplasia occurred in two cases and necrotizing enterocolitis in one. Two infants died. CONCLUSION: Iatrogenic perforation remains a difficult diagnosis. Clinical findings, plain chest x-ray and oesophagography are helpful. Surgery can be completely avoided in most instances. Infants with low birthweight and prematurity are most at risk.

Congenital adenomatoid disease of the lung: prenatal diagnosis and perinatal management

Prenatal ultrasonographic (US) detection of congenital adenomatoid malformation (CAM) was made in 18 fetuses at 17 - 36 weeks' gestation and managed in our institution during a 10-year period (1985-1994). The lesion was left-sided in 13 cases, right-sided in 4, and bilateral in 1. According to Stocker's classification, 12 cases were type I, 4 type II, and 2 type III. The prenatal course was followed with serial US examinations in 13 cases; the size of the lesion was stable in 8 and decreased in 5. Mediastinal shift was usually observed, and amniotic fluid volume was increased in 4 cases. One fetus was aborted. Six infants presented with respiratory distress syndrome and required neonatal surgery; delayed surgery was performed in 9 cases. Spontaneous regression of the lesion was observed on follow-up in 2 cases. Surgery consisted in lobectomy in 8 cases and segmentectomy in 6. The presence of fetal hydrops, type III lesions, and bilateral lung involvement are prenatal factors known to be associated with a poor prognosis. However, this series and a review of the literature suggest that caution should be observed with regard to the initial impression when counseling the parents regarding prognosis.