The longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases.

Neonatal cushing syndrome (NCS) is a rare disease that results from prolonged exposure to high cortisol levels. McCune-Albright syndrome (MAS) is an exceedingly rare genetic disorder characterized by cafe-au-lait skin spots, bone fibrous dysplasia and multiple endocrinopathies. We describe a case of a premature neonate with Intrauterine Growth Retardation who presented with hypercortisolemia, neonatal transaminitis and cardiac dysfunction. Further evaluation revealed significant bilateral adrenal hyperplasia leading to the diagnosis of NCS as part of MAS. Despite maximum medical therapy, including metyrapone, the baby's refractory hypertension, hyperglycemia and persistent failure to thrive (weight of 1.4 kg at corrected age 38 weeks) necessitated bilateral adrenalectomy. This case did not initially demonstrate the classic MAS triad, notably, the absence of skeletal manifestations. There has been no previous description of a baby who has had all the early life-threatening features present and survived beyond 18 months. This case highlights the severity of the phenotype and the challenges involved in diagnosing and treating NCS and MAS in neonates.

Routine utilization of single-incision pediatric endosurgery (SIPES): a 5-year institutional experience.

BACKGROUND: Single-incision pediatric endosurgery (SIPES) allows operation through one access site, eliminating the multiple sites traditionally used. There are few large series evaluating the versatility of SIPES. The purpose of this study is to review a 5-year single-institution experience with routine SIPES use. PATIENTS AND METHODS: This is an Institutional Review Board-approved retrospective analysis of prospectively collected data. All SIPES cases from March 2009 to December 2013 were included. Our database contains demographics, procedure type, operative duration, estimated blood loss, instance of added ports or conversion to open, complications, and follow-up duration. RESULTS: Of 1322 SIPES operations performed, most (82.1%) were appendectomies and cholecystectomies. Of 871 (66%) patients seen in follow-up, with a median duration of 26 days, 53 (6.1%) experienced postoperative complications. Forty-two cases (4.8%) were surgical-site infections, of which 4 required drainage. Less frequent complications that required operative intervention include recurrent inguinal hernia (n=4), umbilical hernia (n=3), intraabdominal abscess (n=1), bleeding (n=1), abdominal compartment syndrome (n=1), bowel obstruction (n=1), stitch granuloma (n=1), and persistent postoperative pain (n=1). CONCLUSIONS: Operative times and complication rates are comparable to those in prior reported multiport laparoscopic series, allowing safe integration of SIPES into the routine of a surgical practice for most common procedures.

Intestinal rehabilitation and bowel reconstructive surgery: improved outcomes in children with short bowel syndrome.

BACKGROUND AND AIM: Short bowel syndrome poses a great challenge to pediatric teams. Several innovative techniques in the management of total parenteral nutrition (TPN) and bowel reconstructive surgery have improved the outcomes of these children. The authors present their experience during the last decade as a specialist unit using improved techniques and multidisciplinary approaches in the management of this condition. METHODS: All of the children presenting with short bowel syndrome between 2000 and 2009 were identified. Diagnosis, length of residual gut, age at definitive surgery, length of gut prelengthening, length of gut postlengthening, TPN status, and survival were recorded. Median values were calculated. RESULTS: Twenty-seven children were identified (14 boys, 13 girls). Overall survival was 92%. Two children died. Nineteen children required bowel lengthening and 8 children had simple bowel reconstruction while on our protocol. Overall median age at definitive surgery was 12 months. Overall median residual gut length for these was 35.5 cm, whereas the median residual gut length for patients undergoing bowel lengthening was 25 cm. Postbowel lengthening, the median gut length was 90 cm. TPN data were unavailable for 2 patients. Overall, excluding the 2 patients who died and the 2 we have no TPN data on, of 23 patients, 21 (91%) are now off TPN. CONCLUSIONS: Our series shows improved results not only with survival but also in the number of patients that are off TPN. Multidisciplinary approach consisting of both medical and surgical expertise is necessary in the management of these patients. The authors advocate centralisation of short gut services to experienced centers with multidisciplinary expertise.

BAPS UK inflammatory bowel disease surgical practice survey.

AIMS: A recent survey of children with inflammatory bowel disease (IBD) identified wide regional variations of care within the UK. The present study was designed to analyse paediatric surgical provision for children with ulcerative colitis and Crohn's disease. METHODS: All UK paediatric surgical centres were contacted to identify surgeons with a subspecialist interest in IBD. A questionnaire was designed to probe specific areas including team working, caseload, and transitional care. Annual consultant caseload was requested for colonoscopy, J-pouch ileoanal anastomosis (IPAA) for ulcerative colitis, and strictureplasty (Crohn's disease). The questionnaire and the accompanying letter were approved by the BAPS Research and Clinical Effectiveness Committee. RESULTS: The response rate from individual centres was 86% (25/29). In 11% of centres, care was shared between 2 consultants. A transitional care clinic was provided by 77% of centres. The median experience with IPAA was 0.9 cases per year of consultant practice (range, 0-3.7), and 12.5% of surgeons had limited experience of revision pouch surgery. The majority have arrangements for joint operating with adult surgeons for IPAA. Forty percent of surgeons reported experience with strictureplasty. Surgical preference for recalcitrant left-side Crohn's colitis favoured segmental resection (60%), compared to subtotal/panproctocolectomy. CONCLUSIONS: Paediatric surgeons use a diversity of surgical management options in IBD. Experience with IPAA is limited for most surgeons. Whether children should undergo elective IPAA independent of experienced adult practitioners, who naturally assume responsibility after transition, requires careful debate.

Anorectal malformation with tubular hindgut duplication.

The association of hindgut duplication and anorectal malformation is rare. Published classifications of this association are confusing in respect of terminology. We report a case of blind-ending, Y-shaped tubular duplication of the distal hindgut, associated with an anorectal malformation (rectourethral fistula) affecting the colon proper. Surgical options at time of presentation and of reconstructive surgery are discussed. A review and suggested modification of the classifications is presented.