Online Exclusives
Extrahepatic vitelline vein aneurysm: prenatal diagnosis and follow up
Umbilical vein varix is a well-described prenatal anomaly in which the prognosis remains unclear. We describe a very rare venous malformation that mimicked an umbilical vein varix consisting of a persistent vitelline vein. From 2003 to 2010, three patients were referred starting at 20 weeks gestation to our prenatal centers for an umbilical vein varix diagnosis. Fetal follow up was unremarkable, with the exception of the dilated vein size (mean: 35 mm at 33 weeks gestation). After birth, the three children presented with thrombosis from the aneurysmal sac to the portal trunk.Extralobar pulmonary sequestration with an unusual venous drainage to the portal vein: preoperative diagnosis and excision by video-assisted thoracoscopy
Pulmonary sequestration is an uncommon congenital malformation of the lung that can be classified as intralobar or extralobar (ELS). Approximately 90% of ELS occur in the left hemithorax. Approximately 10% of ELS may present below the diaphragm. Both types of sequestrations are characterized by pulmonary tissue that does not communicate with the bronchial tree. The arterial blood supply to 80% ELS is through a direct branch of the thoracic or abdominal aorta, in 15% via another systemic artery and 5% from the pulmonary artery.Prenatal intrarenal neuroblastoma mimicking a mesoblastic nephroma: a case report
Mesoblastic nephroma is by far the most frequent intrarenal fetal tumor. To the best of our knowledge, we report the first case of a newborn with an intrarenal neuroblastoma that was discovered prenatally. An intrarenal echogenic and homogenous mass was observed on routine prenatal ultasonography, corroborated by magnetic resonance imaging, in a 30-week gestation fetus. A male weighing 3280 g was born with elevated blood pressure and cardiac failure. Postnatal ultrasound confirmed a left intrarenal tumor with microcalcifications and perirenal adenopathy.Complex communicating bronchopulmonary foregut malformation with pancreatic heterotopy depicted with fetal magnetic resonance imaging: a case report
Bronchopulmonary foregut malformation (BPFM) is a group of rare congenital anomalies that affect the respiratory and upper gastrointestinal tracts. We report here the first case of prenatal depiction of communicating BPFM, including extrapulmonary sequestration and foregut cyst, both with pancreatic differentiation. Magnetic resonance imaging on the fetus confirmed a polymalformative syndrome with right-lung and gastric cysts and allowed the detection of respiratory and alimentary tracts communication and aberrant feeding vessels.Thoracoscopic segmentectomy: one vessel may hide a second one
We report the case of an asymptomatic neonate prenatally diagnosed with a left basal pulmonary sequestration. The preoperative chest computed tomography with contrast showed 2 aberrant arteries arising from the distal thoracic aorta and supplying the intralobar left inferior lung malformation. Strategy and treatment by thoracoscopic segmentectomy are presented.Disorders of interstitial cells of Cajal in a neonate with segmental dilatation of the intestine
Localized myopathy of the muscular layers may be an important factor contributing to segmental dilatation of the intestine (SDI). Only one report has described SDI of the jejunum in a neonate showing no abnormality of the interstitial cells of Cajal (ICC). The present report describes the very rare case of a neonatal girl with segmental dilatation of the distal duodenum and proximal jejunum with irregular arrangements of Auerbach's plexus and ICC and the successful surgical treatment of SDI. We review the literature on this type of relationship between abnormality of ICC and SDI and discuss the clinical features of this complication.Prenatal and postnatal ciliated hepatic foregut cysts in infants
Ciliated Hepatic Foregut Cyst (CHFC) is a rare congenital lesion arising from the embryonic foregut. Since squamous cell carcinomas arising from CHFC have been reported in adults, complete resection should be considered. We report our experience with CHFC.Multiorgan developmental anomalies presenting as a variation of the serpentine-like syndrome: cervical fusion and brachioesophagus with intrathoracic stomach and malposition of duodenopancreas and spleen
Congenital brachioesophagus with secondary intrathoracic stomach is an extremely rare condition. In association with rachischisis, the latter condition has been described recently as “serpentine-like syndrome.” We report here a unique case of a male infant with normal karyotype from healthy nonconsanguinous parents, presenting with a complex malformative syndrome combining ultrashort brachioesophagus with intrathoracic stomach, duodenum, pancreas, and spleen associated with short neck because of posterior fusion and scoliosis.Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas
Tracheal agenesis (TA) is an extremely rare, typically fatal congenital tracheal malformation. Lack of prenatal symptoms and emergent presentation usually lead to a failure to arrive at the correct diagnosis and manage the airway properly before the onset of irreversible cerebral anoxia. Esophageal atresia (EA) encompasses a group of congenital anomalies comprising an interruption of the continuity of the esophagus with or without a persistent communication with the trachea. In 86% of cases, there is a distal tracheoesophageal fistula (TEF); in 7%, there is no fistulous connection, whereas in 4%, there is a TEF without atresia.Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula
Extraluminal calcified meconium is found frequently by prenatal ultrasound in cases with bowel perforation and meconium peritonitis. Intraluminal intestinal meconium calcifications are rarely seen in prenatal sonography. Meconium calcifications result from a mixture of meconium and urine that indicates a connection between intestinal and urinary tract. We report a case of a male newborn prenatally diagnosed with intraluminal echogenic calcifications at 23 weeks of gestation, suggesting an anorectal malformation (ARM) with rectourinary fistula.Prenatally diagnosed patent urachus with bladder prolapse
We report 2 cases of patent urachus with bladder prolapse, which has a characteristic finding of “disappearance of cyst” antenatally. In the first case, a 34-year-old woman presented at 14 weeks gestation for evaluation of a cyst. Prenatal ultrasonography revealed a cystic mass at the base of the umbilical cord, communicating with the bladder. At 26 weeks gestation, the cyst had disappeared, and a solid mass bulged out inferior to the umbilical cord. At term, the patient delivered a male infant.Congenital lingual cysts
Congenital lingual cysts are rare congenital tumors of the oropharynx, which should be suspected when the tongue appears enlarged by a mass. Prenatal diagnosis by ultrasound allows for an optimal management at the time of delivery because the mass can obstruct the airways. Unless the cyst enlarges and hinders feeding or breathing, surgical treatment is indicated only a few months after birth because spontaneous regression can sometimes be observed.The impact of 3-dimensional ultrasonography on perinatal management of a large epignathus teratoma without ex utero intrapartum treatment
We report a case of epignathus teratoma diagnosed at 22 weeks of gestation in which 3-dimensional ultrasound (3DUS) was useful to plan perinatal management. A significant enlargement of the tumor, associated with polyhydramnios and preterm labor, was observed at 35 weeks of gestation. After amniotic fluid evacuation, 3DUS was performed in the presence of pediatricians, obstetricians, and otolaryngologists. Three-dimensional ultrasound revealed that great part of the tumor was located outside the fetal mouth and anterior to fetal mandible, suggesting that the newborn could breathe spontaneously by nasal via.Congenital symptomatic intrahepatic arteriovenous fistulas in newborns: management of 2 cases with prenatal diagnosis
Fetal and neonatal hepatic arteriovenous fistulas are rare and associated with a high mortality rate; they can be prenatally detected by ultrasonography. Management of these malformations can be a challenge for pediatric surgeons.Combined thoraco-laparoscopy for trans-diaphragmatic thoraco-abdominal enteric duplications
During the last years, several thoracic and abdominal enteric duplications were resected in our institution by means of minimally invasive approaches [Rev Cir Infantil 1999;9(2):113-115]. Our last patient, however, had a giant thoraco-abdominal duodenal duplication, extending from the upper thoracic cavity to the pelvis, in a dumbbell fashion. Forty days after birth, a combined “thoraco-laparoscopy” was performed, achieving a complete resection of the cyst. The diaphragmatic defect was repaired as well.Surgical repair of combined gastroschisis and sternal cleft
We present a case of prenatally diagnosed gastroschisis combined with a sternal cleft, as well as the successful surgical management of this unusual condition. Successful management of gastroschisis combined with sternal cleft has not been reported before in the literature.Chest wall mesenchymal hamartoma associated with a massive fetal pleural effusion: a case report
We report on an extremely rare chest wall mesenchymal hamartoma associated with a massive fetal pleural effusion. Prenatal ultrasound examination demonstrated a heterogeneous mass in the right thorax associated with a massive pleural effusion and right lung compression at 29 weeks of gestation. The patient underwent pleuroamniotic shunting at 30 weeks and was delivered at 33 weeks by cesarean delivery secondary to fetal distress. After management of the respiratory distress and evaluation of the mass, surgery was performed at day of life 8.
