Atypical presentation of currarino syndrome: A case report.

INTRODUCTION: Currarino syndrome is a rare congenital disorder characterized by a triad of anorectal malformation, a sacral bone defect, and a presacral mass. It results of an abnormal separation of the ectoderm from the endoderm caused by HLXB9 mutation in chromosome 7q36 in 50% of cases. The disorder is mostly hereditary as it can also be sporadic with a variable expression spectrum. PRESENTATION OF CASE: The case of a previously healthy 3-month-old girl with abdominal distension, post-prandial vomiting, obstipation, and anuria of 5 days' history is presented in this article. Abdomino-pelvic magnetic resonance imaging (MRI) showed a large cystic multilobulated mass in the sacrococcygeal region with a dural communication evident of an anterior sacral meningocele. 1 year later, the child came back with constipation and was found to a have a malignant mixed germ cell tumor in the presacral area, a very rare presentation in Currarino syndrome. DISCUSSION: In a child presenting with at least one of the features of Currarino syndrome's triad, a diagnosis should be suspected. After reviewing the literature, the syndrome is usually missed and hence is under diagnosed. MRI is the best imaging modality for diagnostics and follow-up for any mass, benign or malignant, can bring life saving measures. Most masses are benign but can undergo malignant transformation even after resection. De novo malignancy is very rare and is described in our case. CONCLUSION: Physicians treating patients with spinal dysraphism should suspect a diagnosis of Currarino syndrome by follow up imaging for any new benign or malignant growth.

Thoracoscopy Versus Open Surgery for Persistent Ductus Arteriosus and Vascular Ring Anomaly in Neonates and Infants.

BACKGROUND: The aim of our study was to report our experience in thoracoscopy in infants and neonates for vascular surgical conditions in neonates and infants and to compare our results to open surgery regarding the short-term outcome. PATIENTS AND METHODS: We retrospectively reviewed all the patients operated in a single institution from 1997 to 2016 for persistent ductus arteriosus (PDA) and vascular ring (VR) anomalies. We compared our thoracoscopic series to a historical control group operated by open surgery. Data collection from charts and office notes included age and weight at surgery, cardiac ultrasound data for PDA, preoperative clinical symptoms for VR, type of surgery, operating time, analgesic treatment requirements, ventilation status during postoperative course, and early complications. RESULTS: The thoracoscopic group included 13 PDA (median age and weight at surgery: 34 days and 1800 g) and 11 VR (median age and weight at surgery: 8 months and 7000 g). The thoracoscopic group did not differ in preoperative symptoms and work-up, operating time, ventilation status, length of hospital-stay, and postoperative complications with the group operated on by thoracotomy, for either PDA or VR. CONCLUSION: Our short-term results in thoracoscopic PDA closure and VR anomalies surgery in neonates and infants are comparable to open surgery. Thoracoscopy seems to provide less pain especially for neonates and premature babies and allows to decrease the risk for postoperative chest wall deformities. Long-term outcome is mandatory to confirm these preliminary results.

Celiac disease presenting as acute colonic pseudo-obstruction.

Acute colonic pseudo-obstruction rarely presents in children. Upon diagnosis, initiating conservative management and identification of an underlying etiology is mandatory. We describe the case of an 8-year-old girl who presented with signs of acute abdominal distention with no evident etiology. The diagnosis of celiac disease was suspected and confirmed by intestinal biopsy. Based on this case and other reported cases in the literature, we discuss this unusual mode of presentation of celiac disease, the underlying etiology and suggest management options to avoid unnecessary aggressive interventions.

Diffuse persistent interstitial pulmonary emphysema treated by lobectomy.

Persistent interstitial pulmonary emphysema is a rare condition that occurs in preterm infants on mechanical ventilation, characterized by abnormal accumulation of air in the pulmonary interstitium, due to disruption of the basement membrane. Diffuse persistent interstitial pulmonary emphysema is observed when small cysts are noted in all lobes of the lung. The management of infants suffering from diffuse persistent interstitial pulmonary emphysema varies according to severity and stability of the patient, being either conservative treatment or aggressive surgical treatment by pneumonectomy. We report a case of an unstable patient with diffuse persistent interstitial pulmonary emphysema successfully treated by lobectomy as a form of conservative surgical approach.