Pasireotide treatment for severe congenital hyper-insulinism due to a homozygous ABCC8 mutation

ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI

Volvulus as a complication of chronic intestinal pseudo-obstruction syndrome

Chronic intestinal pseudo-obstruction syndrome (CIPS) is a severe motility disorder of the gastrointestinal tract that presents with continuous or recurrent symptoms and signs of intestinal obstruction without evidence of a structural lesion occluding the intestinal lumen. Mechanical obstruction might occur in these patients as well but is typically difficult to distinguish from an exacerbation of CIPS. We report two pediatric cases in which mechanical obstruction by volvulus mimicked an exacerbation of CIPS, requiring surgical intervention. Conclusion: Awareness of the possibility of true mechanical obstruction in CIPS patients during an exacerbation episode is needed, as this is a severe condition and usually requires surgical intervention

Choledochal Malformation in Children: Lessons Learned from a Dutch National Study

Introduction: A choledochal malformation (CM) is a rare entity, especially in the Western world. We aimed to determine the incidence of CM in the Netherlands and the outcome of surgery for CM in childhood. Methods: All pediatric patients who underwent a surgical procedure for type I–IV CM between 1989 and 2014 were entered into the Netherlands Study group on choledochal cyst/malformation. Patients with type V CM were excluded from the present analysis. Symptoms, surgical details, short-term (30 days) complications were studied retrospectively. Results: Between January 1989 and December 2014, 91 pediatric patients underwent surgery for CM at a median age of 2.1 years (0.0–17.7 years). All patients underwent resection of the extrahepatic biliary tree with restoration of the continuity via Roux-en-Y hepaticojejunostomy. Twelve patients (12%) were operated laparoscopically. Short-term complications, mainly biliary leakage and cholangitis, occurred in 20 patients (22%), without significant correlations with weight or age at surgery or surgical approach. Long-term postoperative complications were mainly cholangitis (13%) and anastomotic stricture (4%). Eight patients (9%) required radiological intervention or additional surgery. Surgery before 1 year of age (OR 9.3) and laparoscopic surgery (OR 4.4) were associated with more postoperative long-term complications. We did not observe biliary malignancies during treatment or follow-up. Conclusion: Surgery for CM carries a significant short- and long-term morbidity. Given the low incidence, we would suggest that (laparoscopic) hepatobiliary surgery for CM should be performed in specialized pediatric surgical centers with a wide experience in laparoscopy and hepatobiliary surgery

Clinical significance of concomitant pectus deformity and adolescent idiopathic scoliosis: systematic review with best evidence synthesis

Background: A misbalance in forces is proposed for causing adolescent idiopathic scoliosis (AIS). AIS is therefore correlated to adjacent musculoskeletal pathologies. Its concomitance with idiopathic pectus deformities (PD) is underexposed. This systematic review analyzes the clinical significance and predictive factors of PD-associated AIS. Methods: A search was performed in PubMed, UpToDate, Embase, and Cochrane. A study was included if it: assessed the association between PD and scoliosis (category I), reported a prevalence of scoliosis in PD patients (category II), or addressed other topics about PD-associated AIS (category III). Studies in category I discussing predictive factors were appraised using the Quality in Prognosis Studies tool. Because of heterogeneity among the studies, predictive factors were analyzed according to a best evidence synthesis. A mean prevalence of scoliosis in PD patients was calculated using category I and II. Category III was narratively reviewed. Results: Forty-eight studies were included (I:19, II:21, III:8). Category I comprised 512 patients with PD-concomitant scoliosis. Thirteen studies reported predictive factors, of which 15 concerned the prevalence of scoliosis in PD patients and 12 Cobb Angle (CA) change after PD correction. Compared with AIS, PD seems to develop earlier in adolescence, and PD with concomitant AIS was more frequently reported in older patients. Evidence remained conflicting regarding the association between the severity of PD and that of scoliosis. As opposed to at a younger age, late PD correction is not associated with a postoperative increase of CA. Limited evidence showed that patients with a high CA undergoing PD correction do not experience an increase in CA, though, strong evidence indicated that it would not lead to a decrease in CA. The mean probable prevalence of AIS in PD patients was 13.1%. Conclusion: Current literature confirms the association between PD and AIS in patients with an indication for PD correction. Level of evidence: II

Clinical significance of concomitant pectus deformity and adolescent idiopathic scoliosis: systematic review with best evidence synthesis

Background: A misbalance in forces is proposed for causing adolescent idiopathic scoliosis (AIS). AIS is therefore correlated to adjacent musculoskeletal pathologies. Its concomitance with idiopathic pectus deformities (PD) is underexposed. This systematic review analyzes the clinical significance and predictive factors of PD-associated AIS. Methods: A search was performed in PubMed, UpToDate, Embase, and Cochrane. A study was included if it: assessed the association between PD and scoliosis (category I), reported a prevalence of scoliosis in PD patients (category II), or addressed other topics about PD-associated AIS (category III). Studies in category I discussing predictive factors were appraised using the Quality in Prognosis Studies tool. Because of heterogeneity among the studies, predictive factors were analyzed according to a best evidence synthesis. A mean prevalence of scoliosis in PD patients was calculated using category I and II. Category III was narratively reviewed. Results: Forty-eight studies were included (I:19, II:21, III:8). Category I comprised 512 patients with PD-concomitant scoliosis. Thirteen studies reported predictive factors, of which 15 concerned the prevalence of scoliosis in PD patients and 12 Cobb Angle (CA) change after PD correction. Compared with AIS, PD seems to develop earlier in adolescence, and PD with concomitant AIS was more frequently reported in older patients. Evidence remained conflicting regarding the association between the severity of PD and that of scoliosis. As opposed to at a younger age, late PD correction is not associated with a postoperative increase of CA. Limited evidence showed that patients with a high CA undergoing PD correction do not experience an increase in CA, though, strong evidence indicated that it would not lead to a decrease in CA. The mean probable prevalence of AIS in PD patients was 13.1%. Conclusion: Current literature confirms the association between PD and AIS in patients with an indication for PD correction

Gynaecomastia surgery in the Netherlands: what, why, who, where…

Gynaecomastia, breast enlargement in men, is common in all age groups. It is operated on by plastic surgeons, general surgeons and paediatric surgeons. It is therefore possible that there is a difference in the populations treated, the indications for surgery and the management used by the different practitioners. We performed a survey in order to assess the approach to treatment of gynaecomastia by the different disciplines. An electronic survey questionnaire was sent to members of the Dutch societies of surgery, paediatric surgery and plastic surgery. We received 105 responses from plastic surgeons, 95 from general surgeons and 15 from paediatric surgeons, representing respective response rates of 38.7%, 23.8% and 42.8%. Plastic surgeons operated on gynaecomastia most frequently. The diagnostic criteria and workup were similar for all disciplines, although general surgeons used more imaging. There was a difference in the side operated on. General surgeons and paediatric surgeons operated mainly on unilateral cases (74% and 52%), while plastic surgeons operated mainly on bilateral cases (85%). Pharmaceutical treatment with Tamoxifen was reported only by general surgeons (13%). All disciplines used mainly the periareolar incision. Plastic surgeons reported more often the use of other surgical approaches as well as adjunctive liposuction and they did not always submit tissue for pathological examination. Perioperative antibiotics, drains and pressure garments were not always used. All disciplines agreed that the most common complication was bleeding, followed by seroma, infection, insufficient results, inverted nipple and nipple necrosis. This survey highlights some differences in the practice of gynaecomastia surgery. The findings appear to point to the fact that the indications are different, being more aesthetic in the case of plastic surgeons. The results of this survey are important in establishing the standard of care and may be helpful for setting guideline

Ravitch Surgery or Dynamic Compression Bracing for Pectus Carinatum: A Retrospective Cohort Study

Background: Pectus carinatum is a pediatric condition that can be treated by dynamic compression system (DCS) bracing or surgery. Several publications on DCS bracing or surgery are available; however, they do not compare both treatments. Methods: Over a 10-year period, 738 patients with pectus carinatum were treated at the Amsterdam Pectus Center (Amsterdam, The Netherlands). This study describes this 10-year experience and the results of both treatments. Results: Of the 631 patients who underwent DCS bracing treatment, 553 finished treatment, and 78 patients are still under treatment. A total of 73.8% (n = 408) of these patients finished treatment successfully, 13.6% (n = 75) experienced treatment failure, and 12.7% (n = 70) were lost to follow-up. The success rate decreased with an increasing pressure of initial compression (84.2%-67.3%). Marfan syndrome and Poland syndrome were associated with unfavorable results. Ravitch surgery was performed in 105 patients, with a success rate of 92.4%. Complications occurred in 32.4% of patients, and 6.7% of patients had complications for which surgery was needed. No relationship was found between osteotomy or sternal fixation and outcomes or complications. The Abramson procedure was performed in 2 patients. Conclusions: DCS bracing should be the treatment of choice in patients with pectus carinatum because of its noninvasiveness, good results, and lower complication rate compared with surgery. Besides pressure of initial correction, motivation is an important factor influencing outcomes, and compliance remains a major challenge in treating pectus carinatum using DCS bracing. Bracing patients before their growth spurt should be discouraged. Patients with a higher pressure of initial compression (>8.0-8.5 psi) and Marfan syndrome or Poland syndrome have poorer outcomes. In those patients, surgery may be considered

Missed Proximal Tracheoesophageal Fistula (TEF) in a Neonate with Type D Esophageal Atresia

We present the case of a patient with the rare type D esophageal atresia (EA), diagnosed after correction of an EA initially diagnosed as type C. Routine postoperative contrast esophagogram showed a missed proximal tracheoesophageal fistula. This case report illustrates the potential difficulties to diagnose type D EA