Primary spontaneous pneumothorax (PSP) commonly occurs in lean, tall, male children and adolescents. To reduce recurrence rates of PSP, chemical pleurodesis could be helpful for patients undergoing video-assisted thoracoscopic surgery (VATS) wedge bullectomy. The efficacy and safety of intraoperative OK-432 (Picibanil) pleurodesis on preventing the recurrence of PSP in pediatric patients remain unclear. It is a retrospective observational study in a single center, between 2014 and 2020, enrolled 48 (8 females) pediatric PSP patients with persistent air leakage at the mean age of 16.3 ± 1.1 years to receive VATS wedge bullectomy and pleural abrasion. Twenty patients received additional intraoperative OK-432 pleurodesis. The clinical characteristics of patients, surgical outcomes, and recurrence rates were analyzed. The OK-432 group had longer operation time (118.6 ± 35.6 vs. 96.5 ± 23.3 min; p < 0.05) and higher proportion of postoperative fever (75.0

Background: Omphalocele and gastroschisis are the two most common congenital abdominal wall defects; however, no previous study has focused on gastrointestinal and hepatobiliary tract malformations in these two conditions. This study aimed to investigate the demographic characteristics, coexisting congenital gastrointestinal and hepatobiliary tract anomalies, hos-pital course, and outcomes of patients with gastroschisis and omphalocele.Methods: This is retrospective chart review of all patients admitted to one tertiary medical center in Taiwan between January 1, 2000 and June 30, 2020 with a diagnosis of gastroschisis or omphalocele. The medical records were reviewed to obtain demographic data regarding co-existing gastrointestinal and hepatobiliary tract anomalies and outcomes.Results: Of the 51 patients included, 21 had gastroschisis and 30 had omphalocele. Gastroschi-sis was associated with a significantly younger maternal age and a higher incidence of small for gestational age. Of the 30 patients with omphalocele, twelve had associated gastrointestinal and hepatobiliary anomalies. Seven of the 21 patients with gastroschisis had gastrointestinal anomalies, and none had hepatobiliary anomalies. Among the omphalocele patients, three (10%) had documented malrotation, and one developed midgut volvulus. Among gastroschisis patients, four patients (19%) had malrotation, and two developed midgut volvulus. There were no statistically significant differences in postoperative complications or mortality rates be-tween those with and without gastrointestinal/hepatobiliary tract anomalies.Conclusion: The diversity of coexisting gastrointestinal and hepatobiliary tract anomalies is higher in the omphalocele than in gastroschisis. In addition, we demonstrate that patients with gastroschisis or omphalocele have a higher rate of intestinal malrotation and midgut volvulus.Copyright 2022, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/ by-nc-nd/4.0/).

Abstract Rationale: Multiseptate gallbladder (MSG) is a rare congenital gallbladder anomaly. Between 1963 and June 2021, only 56 cases were reported. There is currently no treatment guideline for pediatric or adult cases of MSG. Patient concerns: A 14-year-old woman visited our out-patient clinic in September 2020 for epigastric pain that last for 6 months. Honeycomb appearance of the gallbladder was noted under ultrasonography. Diagnosis: The patient was diagnosed with MSG. The diagnosis was confirmed through computed tomography and magnetic resonance cholangiopancreatography. Interventions: Cholecystectomy was performed. Outcomes: Epigastric pain showed limited improvement after the surgery. Since she was diagnosed with gastritis at the same time, a proton-pump inhibitor was prescribed. Epigastric pain was eventually resolved. Lessons: MSG cases can undergo cholecystectomy and show good recovery without complications. However, concomitant treatment may be required to resolve in the presence of other symptoms such as epigastric pain.

Total anomalous pulmonary venous connection (TAPVC) with congenital diaphragmatic hernia (CDH) is a disease entity with high mortality rate. Association with atretic left pulmonary artery increased the complexity of the anomalies. Here, we reported a newborn baby with these complex congenital anomalies successfully treated surgically. Over 13 years after surgery, there was substantial growth of left pulmonary artery which was angiographically atretic at his newborn stage, which was rarely reported. Currently, this patient is drug free and is in functional class I of New York heart association.

Rationale: Infantile inflammatory bowel disease (IBD) is an extremely rare subgroup of IBD that includes patients whose age of onset is younger than 2 years old. These patients can have more surgical interventions, and a severe and refractory disease course with higher rates of conventional treatment failure. Monogenic defects play an important role in this subgroup of IBD, and identification of the underlying defect can guide the therapeutic approach. Patient concerns: In 2007, a 4-month-old girl from a nonconsanguineous family presenting with anal fistula, chronic diarrhea, and failure to thrive. She underwent multiple surgical repairs but continued to have persistent colitis and perianal fistulas. Diagnosis: Crohn's disease was confirmed by endoscopic and histologic finding. Intervention: Conventional pediatric IBD therapy including multiple surgical interventions and antitumor necrosis factor alpha agents were applied. Outcomes: The patient did not respond to conventional pediatric IBD therapy. Interleukin-10 (IL-10) receptor mutation was discovered by whole-exome sequencing and defective IL-10 signaling was proved by functional test of IL-10 signaling pathway by the age of 12. The patient is currently awaiting hematopoietic stem cell transplantation. Lessons: Early detection of underlying genetic causes of patients with infantile-IBD is crucial, since it may prevent patients from undergoing unnecessary surgeries and adverse effects from ineffective medical therapies. Moreover, infantile-IBD patients with complex perianal disease, intractable early onset enterocolitis and extraintestinal manifestations including oral ulcers and skin folliculitis, should undergo genetic and functional testing for IL-10 pathway defect.

Non-traumatic acute intestinal perforation in children is an urgent event, mostly secondary to bacterial Enterocolitis. Immediate surgical intervention is required. Exploratory laparotomy in conjunction with various procedures, such as primary repair, bowel resection, with/without stoma creation, has been the gold standard in past decades. In recent years, experienced surgeons turned to apply minimally invasive surgery in emergency circumstances for both adults and children [14]. Laparoscopy was also utilized to deal with this entity. Favorable results were reported [1,4]. The author would introduce the experience of laparoscopic approach for non-traumatic acute intestinal perforation in children. The aim of the study is to evaluate the feasibility and outcomes.

RATIONALE:Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Intracranial hemorrhage secondary to tortuous intracranial arteries is a well-known complication of MD, but spontaneous retroperitoneal hemorrhage, to the best of our knowledge, has never been reported in a patient with MD. Herein, we describe the first case of retroperitoneal hematoma as a complication of MD in a 4-year-old boy.PATIENT CONCERNS:A 4-year-old Taiwanese male patient with MD was referred to the hospital and presented with a palpable epigastric mass.DIAGNOSES:On the basis of the findings of ultrasonography and enhanced computed tomography, the diagnosis was retroperitoneal hematoma.INTERVENTIONS:Interventions included laparotomy with evacuation of the hematoma, manual compression, and suture of the bleeding vessels.OUTCOMES:There were no postoperative complications.LESSONS:This case emphasizes that bleeding in patients with MD is possible at any site in the body owing to the unstable structure of the connective tissues. Timely diagnosis with proper imaging studies can lead to prompt and appropriate management and save patients from this life-threatening condition.

Rationale: Pulmonary amyloidosis is a rare respiratory disease characterized by amyloid deposition in the lungs. The clinical manifestations of pulmonary amyloidosis are variable and without specific symptoms. Patient concerns: We report a rare case of tracheobronchial amyloidosis to improve our understanding of the disease. Diagnoses: The diagnosis of tracheobronchial amyloidosis was finally established by transbronchoscopic lung biopsy and histological examination. Interventions: The patient significantly improved with methylprednisolone sodium succinate for injection (40mg/day) for 5 days and low-dose oral prednisone for 10 days. Outcomes: After treatment, discomfort, such as cough, stridor, dyspnea, and chest tightness, disappeared, and he was discharged. The patient was in good clinical condition after 8 months of follow-up. Conclusion: This case clearly shows that it is difficult to distinguish tracheobronchial amyloidosis from other diseases with manifestations of cough, dyspnea and chest tightness because of their similar symptoms and imaging findings. Thus, the role of transbronchoscopic lung biopsy and histological examination in the diagnosis of tracheobronchial amyloidosis is very important. Abbreviations: AH = immunoglobulin heavy chain, AL = immunoglobulin light chain, CT = computed tomography.

Background: Neuroblastoma is a common childhood cancer with poor prognosis. This is a retrospective review of the outcomes in children with low-stage neuroblastoma in Taiwan. Methods: We reviewed the charts of all children with International Neuroblastoma Staging System (INSS) stages 1 and 2 diagnosed at the Mackay Memorial Hospital between November 1994–December 2013. The patients' demographic data, age of diagnosis, treatment, and survival rates were analyzed. Results: A total of 75 children with all stages of neuroblastoma were identified, of which 23 children in the low stage were enrolled. There were 12 (16.0%) patients in stage 1, and 11 (14.6%) patients in stage 2. The mean age of diagnosis for stage 1 and stage 2 was 5.4 months and 10.2 months, respectively. A total of 18 (78.3%) patients received initial complete surgical excision, and 5 patients received initial biopsy. The site of the tumor was the adrenal gland in 19 (82.6%) patients. Total or near-total resection was possible in 18 (78.3%) patients; all children with stage 1 were treated by complete surgical resection. Seven patients (63.6%) in stage 2 received chemotherapy. Children in both stages 1 and 2 had the same 5-year overall survival of 100%. The event-free survival rate for patients in stage 1 and stage 2 was 91.7% and 81.8%, respectively. Conclusion: This retrospective study confirmed that children with stage 1 and 2 neuroblastoma had good outcomes. Specifically, children with stage 1 disease are best treated by surgery alone, but selected patients in stage 2 need additional chemotherapy.

Background:Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported.Methods:We report a Taiwanese boy with MD who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction, with the 2 episodes 23 months apart. The patient returned to the usual physical status after surgical removal of the hematoma.Results:The defective copper metabolism causes dysfunction of a plenty of copper-dependent enzymes, giving rise to unique kinky hair appearance, progressive neurodegeneration, and connective tissue abnormalities. To our knowledge, this is the first report on recurrent subserosal hemorrhage of intestine in MD.Conclusion:Owing to the fragile structure of blood vessels, subserosal hematoma should be considered when patients with MD having intestinal obstruction.

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. CHI is characterized by unregulated secretion of insulin from pancreatic β cells. Here, we reported the case of a large-for-gestational-age, full-term newborn that suffered from CHI and developed severe and persistent hypoglycemia at an early stage of life. The infant was nearly unresponsive to medical treatment, which included continuous intravenous glucagon infusion, oral diazoxide, and nifedipine. After medical treatment had failed, an 18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography scan of the patient showed a focal lesion at the neck of the pancreas. The patient received subtotal pancreatectomy, and shortly after the procedure, the patient's blood sugar returned to the normal range. The patient was confirmed to have a novel heterozygous mutation at position c.2475+1G>A of the ABCC8 gene. This is the first report of a focal form of CHI in a patient in Taiwan, which had preoperatively been confirmed using 18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography.

Background: We determined the chest height in a cohort of patients with primary spontaneous pneumothorax (PSP) who had received chest radiographic examinations prior to the attack. The aim of this study was to determine when their chest height began to change and how this was related to the PSP.Methods: From June 2009 to February 2012, the chest posteroanterior radiographs of 156 patients with PSP (Group 1) were reviewed. Among another 3134 patients with PSP, we identified 52 patients who had a chest posteroanterior radiograph prior to the attack (Group 2). We also recruited 196 controls for comparison (Group 3). The chest height and chest width at different levels were measured and analyzed.Results: Before 14 years of age, the chest height of patients in Group 2 was no different from that of patients in Group 3. By the age of 14 years, however, the chest height and upper chest width of patients with PSP was significantly higher than that of the normal controls. The difference from normal chest height did not increase at adulthood.Conclusion: The rapid increase in chest height and upper chest width is a unique finding in patients with PSP. It might be attributable to the occurrence of PSP. This finding may also help to identify patients who are at risk of PSP. Copyright (C) 2014, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.

The major problem in the management of Peutz–Jeghers syndrome (PJS) is small-bowel polyps, which can cause intussusception and bleeding. Double-balloon endoscopy (DBE) enables endoscopic resection of small-bowel polyps.The aim of this study was to determine the efficacy and safety of endoscopic management of small-bowel polyps in PJS patients by using DBE.Retrospective chart review.Single university hospital.Consecutive patients with PJS who underwent multiple sessions of DBE for evaluation or treatment of small-bowel polyps between September 2000 and April 2009.Endoscopic resection of small-bowel polyps in PJS patients was performed by using DBE.Efficacy, safety, and long-term laparotomy rate after the procedures were evaluated.Fifteen patients (10 men, mean age 34.0 ± 15.8 years) underwent DBE for a mean 3.0 ± 1.0 sessions. The mean numbers of resected polyps larger than 20 mm significantly decreased as sessions advanced (first, 3.6; second, 1.3; third, 0.7; fourth, 0.4; and fifth, 1.0; P = .02). The mean maximum sizes of resected polyps also significantly decreased at each session: 33, 19, 12, 17, and 30 mm (P = .01). One patient had a perforation, but was managed conservatively. Other complications were pancreatitis (n = 2) and bleeding (n = 2). Only 1 patient underwent surgery for intussusception during the study period.This was a small single-center retrospective study of short duration.Endoscopic management of small-bowel polyps in PJS patients by using DBE is safe and effective and avoids urgent laparotomy.

PURPOSE:This study aims to compare the results of laparoscopy and open surgery for idiopathic intussusception in children as well as evaluate the efficacy of ileopexy.METHODS AND MATERIALS:Between January 2007 and July 2013, children aged <18 years who were operated for intussusception in our institution were reviewed. Patients were classified into two groups, laparoscopy (LAP) and open (OPEN). Both groups were further divided into two subgroups, ileopexy (IP) and non-ileopexy (NIP). Parameters investigated included age, gender, operative indication, surgical procedure, type of intussusception, level of intussusceptum, presence of spontaneously reduced intussusception and pathologic lead points, operative time (OP time), time to oral intake (PO time), length of postoperative hospital stay (LOS), and surgical recurrence.RESULTS:There were 23 and 35 patients in LAP and OPEN group, respectively. No significant difference was found on age, operative indication, surgical procedure, type of intussusception, level of intussusceptum, and presence of spontaneously reduced intussusception between both groups. In LAP group, mean OP time was significantly longer; mean PO time and LOS were significantly shorter. One surgical recurrence occurred in each group (p = 0.76). In comparison of LAP-IP (n = 15) and LAP-NIP (n = 8), OP time, PO time, and LOS were similar in both subgroups. One recurrence was noted in LAP-IP (p = 0.46). The overall conversion rate was 13.0 % (6.8 vs. 25 %, p = 0.21). Compared to patients with intussusceptum to ascending colon, the conversion rate was significantly higher in patients with intussusceptum to transverse and descending colon. With the exclusion of conversion, OP time was significantly shorter in LAP-NIP (p = 0.01).CONCLUSION:Laparoscopy should be considered the primary modality for radiologically irreducible or recurrent idiopathic intussusception in children. Ileopexy provides no benefit on recurrence prevention but contributes to longer OP time.

Objective: In dealing with persistent Mullerian duct syndrome (PMDS), excision of Mullerian duct remnant (MDR) has been rarely mentioned in the past, but recent discussions have taken place. This study aimed to evaluate the operative feasibility and outcomes.Materials and methods: Three patients with PMDS operated on with excision of MDR between 2000 and 2009 were enrolled. Medical records were retrospectively collected and reviewed.Results: Bilateral undescended testis was manifested in all cases. Two patients presented with incarcerated hernia, requiring emergency herniorrhaphy at the ages of 6 months and 10 days, respectively. Reconstruction comprising simultaneous MDR excision and orchiopexy was made at the age of 1 year. MDR was incidentally found in another patient during operation for undescended testis. Immediate reconstruction was accomplished. Follow-up periods were 12.0, 3.5, and 2.5 years, respectively. Worse outcomes were noted on the two testes with repeated operations for incarcerated hernias, whereas the outcomes on the other four testes with a single operation were favorable.Conclusions: Excision of MDR is technically feasible, and provides favorable outcomes in cases of a single operation. For experienced surgeons, immediate reconstruction should be the priority when this abnormality is incidentally encountered at an age suitable for orchiopexy. (C) 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Muscle & NerveVolume 47, Issue 4 p. 612-613 Letter to the Editor Low-frequency enzyme replacement therapy in late-onset pompe disease Dar-Shong Lin MD, Corresponding Author Dar-Shong Lin MD Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Mackay Medicine, Nursing and Management College, Taipei, Taiwan Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan Dar-Shong Lin, Department of Pediatrics, Mackay Memorial Hospital, TaipeiTaiwan Hsuan-Liang Liu, Department of Medical Research, Mackay Memorial Hospital, TaipeiTaiwanSearch for more papers by this authorMing-Fu Chiang PhD, Ming-Fu Chiang PhD Department of Neurosurgery, Mackay Memorial Hospital, Taipei, Taiwan Institute of Injury Prevention and Control, Taipei Medical University, Taipei, TaiwanSearch for more papers by this authorChe-Sheng Ho MD, Che-Sheng Ho MD Department of Pediatrics, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorChung-Der Hsiao PhD, Chung-Der Hsiao PhD Department of Bioscience Technology, Chung Yuan Christian University, Chung Li, TaiwanSearch for more papers by this authorChang-Yi Lin MD, Chang-Yi Lin MD Department of Internal Medicine, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorNien-Lu Wang PhD, Nien-Lu Wang PhD Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorChih-Kuang Chuang BSc, Chih-Kuang Chuang BSc Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, TaiwanSearch for more papers by this authorYu-Wen Huang BSc, Yu-Wen Huang BSc Department of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorPo-Chun Chang BSc, Po-Chun Chang BSc Department of Information Management, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorHsuan-Liang Liu PhD, Corresponding Author Hsuan-Liang Liu PhD Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan Dar-Shong Lin, Department of Pediatrics, Mackay Memorial Hospital, TaipeiTaiwan Hsuan-Liang Liu, Department of Medical Research, Mackay Memorial Hospital, TaipeiTaiwanSearch for more papers by this author Dar-Shong Lin MD, Corresponding Author Dar-Shong Lin MD Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Mackay Medicine, Nursing and Management College, Taipei, Taiwan Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan Dar-Shong Lin, Department of Pediatrics, Mackay Memorial Hospital, TaipeiTaiwan Hsuan-Liang Liu, Department of Medical Research, Mackay Memorial Hospital, TaipeiTaiwanSearch for more papers by this authorMing-Fu Chiang PhD, Ming-Fu Chiang PhD Department of Neurosurgery, Mackay Memorial Hospital, Taipei, Taiwan Institute of Injury Prevention and Control, Taipei Medical University, Taipei, TaiwanSearch for more papers by this authorChe-Sheng Ho MD, Che-Sheng Ho MD Department of Pediatrics, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorChung-Der Hsiao PhD, Chung-Der Hsiao PhD Department of Bioscience Technology, Chung Yuan Christian University, Chung Li, TaiwanSearch for more papers by this authorChang-Yi Lin MD, Chang-Yi Lin MD Department of Internal Medicine, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorNien-Lu Wang PhD, Nien-Lu Wang PhD Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorChih-Kuang Chuang BSc, Chih-Kuang Chuang BSc Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, TaiwanSearch for more papers by this authorYu-Wen Huang BSc, Yu-Wen Huang BSc Department of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorPo-Chun Chang BSc, Po-Chun Chang BSc Department of Information Management, Mackay Memorial Hospital, Taipei, TaiwanSearch for more papers by this authorHsuan-Liang Liu PhD, Corresponding Author Hsuan-Liang Liu PhD Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan Dar-Shong Lin, Department of Pediatrics, Mackay Memorial Hospital, TaipeiTaiwan Hsuan-Liang Liu, Department of Medical Research, Mackay Memorial Hospital, TaipeiTaiwanSearch for more papers by this author First published: 30 August 2012 https://doi.org/10.1002/mus.23658Citations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, et al. Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis 2012; 35: 301–310. 2Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 2012; 35: 837–845. 3Vielhaber S, Brejova A, Debska-Vielhaber G, Kaufmann J, Feistner H, Schoenfeld MA, et al. 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg 2011; 113: 350–357. 4Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, et al. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis 2010; 33: 727–735. 5Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni GU, et al. Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis 2010; 33: 737–745. 6van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 2008; 18: 447–452. 7Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, et al. Improvement with ongoing enzyme replacement therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab 2008; 95: 233–235. 8van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010; 362: 1396–1406. 9van der Beek NA, Hagemans ML, Reuser AJ, Hop WC, van der Ploeg AT, van Doorn PA, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord 2009; 19: 113–117. 10Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008; 38: 1236–1245. 11Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68: 99–109. 12Winkel LP, van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 2004; 55: 495–502. 13Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012; 45: 319–333. Citing Literature Volume47, Issue4April 2013Pages 612-613 ReferencesRelatedInformation

We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH). Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months old. Chest radiology plain film revealed typical findings of right-sided CDH. The diagnosis was confirmed after surgical exploration.

BACKGROUND:To classify and evaluate the clinical spectrum of congenital webs in the gastrointestinal (GI) tract, including clinical courses and related factors. METHODS:A retrospective chart review was performed on 37 patients with congenital GI webs at a pediatric care teaching hospital in north Taiwan. All of the related parameters were collected and analyzed. RESULTS:Twelve patients had gastric webs, 22 had duodenal webs, and three had jejunal webs. The mean time to diagnosis was 1576 days for gastric webs, 116 days for duodenal and 230 days for jejunal webs. There was a statistically significant difference between the gastric and duodenal groups (p = 0.001). The major symptom was vomiting (78%). Patients with duodenal webs had a high association with congenital anomalies (50%). The major anomalies included cardiac (27%) and GI anomalies (18%). Endoscopy was performed in 10 gastric cases, and all of them were noted to have positive findings, including a fixed nonfolded stenotic ring following a second gastric chamber and a real pylorus. All of the patients received surgery except for three with gastric webs, and no mortality was noted. The mean postoperative days of tolerated feeding was 6 for those with gastric webs, 10 for those with duodenal and 11 for those with jejunal webs. CONCLUSION:The clinical course of gastrointestinal webs may be chronic or obscure. A delay from onset of symptoms to treatment may exist, especially in gastric webs. We suggest that prompt endoscopic confirmation and surgical intervention for these lesions, when suspected due to clinical and radiologic abnormalities, will decrease the morbidity of unexplained recurrent symptoms or signs of GI obstruction in these patients.

Background: To assess whether constipation or fecal incontinence is a major late complication after posterior sagittal anorectoplasty in patients with anorectal malformation (ARM).Methods: We retrospectively enrolled 188 children, 85 low-type ARM (L-ARM) and 103 high-type ARM (H-ARM), who had complete medical records of bowel habits and medication histories after posterior sagittal anorectoplasty for anorectal malformation in Mackay Memorial Hospital. Stool characteristics as well as physical and medication history were evaluated. The symptom severity (SS) scoring system was used to assess changes in bowel habits.Results: During a mean follow-up period of 4.3 years, constipation was found to be the most common late complication in both groups of patients (64.5% in the L-ARM group and 78.6% in the H-ARM group). Compared to constipation, stool incontinence was much less frequent, with 4.7% in L-ARM and 3.9% in H-ARM. There was no significant difference in mean SS scores between the two groups.Conclusion: Constipation was the most common late sequela in children after correction of ARM in our study. Copyright (C) 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.