Analysis of clinical features of lipoblastoma in children.

OBJECTIVE: A lipoblastoma is pathologically benign but often recurs. Due to its rarity, studies are scarce. The purpose of this study was to investigate the clinical characteristics of lipoblastoma occurring in children and to detect any correlations with the expression of Ki-67. PARTICIPANTS: From 1998 to 2010, 33 patients were diagnosed with lipoblastoma at Seoul National University Children's Hospital. METHODS: Ki-67 immunohistochemistry staining of the tumor tissue was performed. RESULTS: A total of 33 patients (64% males) were enrolled in the study, with a mean age of 28 month. Eleven and 22 lesions were deep and superficial, respectively. Complete excisions were performed for 30 patients, and three underwent incomplete excisions. Two patients who underwent incomplete excision subsequently underwent a second operation due to tumor regrowth, and one patient had a recurrence despite complete excision. There was no statistically significant correlation observed between the tumor size or recurrence and the expression of Ki-67. CONCLUSIONS: Lipoblastoma requires an accurate diagnosis and operative resection to alleviate the symptoms induced by its growth. Incompletely resected tumor may regrow; therefore, complete excision is the treatment of choice. Continuous follow-up is needed to monitor for recurrence of disease, even after a complete excision.

Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease.

PURPOSE: Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder, which is caused by no neuronal ganglion cells in part or all of distal gastrointestinal tract. Recently, our genome-wide association study has identified solute carrier family 6, proline IMINO transporter, member 20 (SLC6A20) as one of the potential risk factors for HSCR development. This study performed a replication study for the association of SLC6A20 polymorphisms with HSCR and an extended analysis to investigate further associations for subgroups and haplotypes. METHODS: For the replication study, a total of 40 single nucleotide polymorphisms (SNPs) of SLC6A20 were genotyped in 187 HSCR subjects composed of 121 short-segment HSCR, 45 long-segment HSCR (L-HSCR), 21 total colonic aganglionosis, and 283 unaffected controls. Imputation was performed using genotype data from our genome-wide association study and this replication study. RESULTS: Imputed meta-analysis revealed that 13 SLC6A20 SNPs (minimum P = 0.0002 at rs6770261) were significantly associated with HSCR even after correction for multiple comparisons using false discovery rate (FDR) (minimum PFDR =  .005). In further subgroup analysis, SLC6A20 polymorphisms appeared to have increased associations with L-HSCR. Moreover, haplotype analysis also showed significant associations between 2 haplotypes (BL3_ht2 and BL4_ht2) and HSCR susceptibility (PFDR <  .05). CONCLUSIONS: Although further replications and functional evaluations are required, our results suggest that SLC6A20 may have roles in HSCR development and in the extent of aganglionic segment during enteric nervous system development.

Pediatric split liver transplantation after Fontan procedure in left isomerism combined with biliary atresia: a case report.

LI is a subset of the heterotaxy syndrome and a rare birth defect that involves the heart and other organs. It can be combined with extracardiac abnormalities, especially BA. CHD can be associated with LI in up to 15% of cases, although it is rare in BA. Pediatric LT for a child with ESLD due to BA combined with LI and CHD is a challenging issue for a transplant surgeon. Herein, we report a successful split LT on a three-yr-old boy with LI who survived after a Fontan procedure due to single ventricle, but who suffered from HPS associated with BA.

Long term outcomes of pediatric liver transplantation according to age.

Liver transplantation (LT) has been the key therapy for end stage liver diseases. However, LT in infancy is still understudied. From 1992 to 2010, 152 children had undergone LT in Seoul National University Hospital. Operations were performed on 43 patients aged less than 12 months (Group A) and 109 patients aged over 12 months (Group B). The mean age of the recipients was 7 months in Group A and 74 months in Group B. The patients' survival rates and post-LT complications were analyzed. The mean Pediatric End-stage Liver Disease score was higher in Group A (21.8) than in Group B (13.4) (P = 0.049). Fulminant hepatitis was less common in Group A (4.8%) than in Group B (13.8%) (P = 0.021). The post-transplant lymphoproliferative disorder and portal vein complication were more common in Group A (14.0%, 18.6%) than in Group B (1.8%, 3.7%) (P = 0.005). However, the 1, 5, and 10 yr patient survival rates were 93%, 93%, and 93%, in Group A and 92%, 90%, and 88% in Group B (P = 0.212). The survival outcome of pediatric LT is excellent and similar regardless of age. LTs in infancy are not riskier than those of children.

Comparison of long-term outcome according to involved aganglionic segments of total colonic aganglionosis.

ABSTRACT: Total colonic aganglionosis (TCA) is a rare form of Hirschsprung disease, with more severe symptoms than rectosigmoid Hirschsprung disease. We aimed to evaluate the surgical outcomes according to the involved segments of TCA.Patients with aganglionosis extending from the anus to at least the ileocecal valve were included. The medical records of 33 TCA patients from 1981 to 2014 were reviewed. Three groups were analyzed based on the involved segment (jejunum, jejunoileal junction, and distal ileum).The median age at the pull-through operation was 6.2 (3.3-114) months. The median follow-up duration was 216 (21-411) months. Transition zone in the jejunum, jejunoileal junction, and distal ileum was identified in 3, 5, and 25 patients, respectively. The most common method of operation was Duhamel pull-through. Perianal excoriation and enterocolitis were the most common postoperative complications. The complication rates were 45% to 51% and not different among the groups. The defecation frequency normalized 3 years postoperatively, and body weight started to recover after 2 years irrespective of the involved segment.Therefore, close monitoring with proper management of defecation and body weight for at least 2 to 3 years postoperatively is required.

Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features.

BACKGROUND: Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. OBJECTIVE: To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. MATERIALS AND METHODS: We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. RESULTS: CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1-10 years of age. On esophagogram, CES (n = 23) was located in the distal esophagus (n = 20, 87%) or mid-esophagus (n = 3, 13%). The degree of stenosis was severe (n = 6, 26%), moderate (n = 10, 43%), or mild (n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant (n = 7) or fibromuscular hyperplasia (n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. CONCLUSION: Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed.

Falciform ligament abscess after omphalitis: report of a case.

A falciform ligament abscess is a rare type of intra-abdominal abscess. A 2-yr-old male, who had omphalitis two months previously, presented with a fever and right upper quadrant abdominal pain. The ultrasound and CT scan showed an abdominal wall abscess located anterior to the liver, which was refractory to conservative management with percutaneous drainage and antibiotics. On the third recurrence, surgical exploration was performed and revealed an abscess arising from the falciform ligament; the falciform ligament was excised. A follow up ultrasound confirmed complete resolution of the abscess with no further recurrence.

Experiences of Rectovaginal Fistula in Anorectal Malformation.

BACKGROUND: Rectovaginal fistulas (RVFs) are very rare malformations in females with anorectal malformations (ARMs). Here, we share the clinical features of RVF and report the long-term outcomes. METHODS: RVF patients were classified using a retrospective analysis of ARM patients who underwent operations at Seoul National University Hospital between January 1999 and May 2017. The Krickenbeck continence scoring system was used to evaluate bowel function 5 and 10 years after surgery. RESULTS: Of the total 460 ARM patients, 203 were female, 7 of whom were diagnosed with RVF. The median age and weight at the time of anorectoplasty were 292 days (range, 140-617) and 8.2 kg (range, 5.5-12), respectively. Six patients had associated anomalies and three patients underwent redo-anorectoplasty. Voluntary bowel movements were observed in 6 out of 7 patients at 5 and 10 years of age. Soiling was observed in all patients at the age of five years and in 6 out of 7 patients at the age of ten years. Constipation was observed in 6 out of 7 patients at both five and ten years of age. CONCLUSIONS: An RVF is a very rare malformation, accounting for 1.5% of total ARMs and 3.4% of ARMs in females. Long-term counseling, education, and guidance are needed for effective management of patients' bowel movements. TYPE OF STUDY: Prognosis study LEVEL OF EVIDENCE: Level IV.

Neuroblastoma: treatment outcome after incomplete resection of primary tumors.

PURPOSE: For International Neuroblastoma Staging System (INSS) stages III or IV neuroblastoma (intermediate or high risk), complete excision of the primary tumor is not always feasible. Most current studies on the treatment outcome of these patients have reported on the complete excision status. The aim of this study is to review the treatment outcome after the incomplete resection. METHODS: The medical records of 37 patients that underwent incomplete resection between January 1986 and December 2005 were reviewed retrospectively. Incomplete resection was assessed by review of the operative notes and postoperative computerized tomography. Age, gender, tumor location, INSS stage, N-myc gene copy number, pre- and postoperative therapy, and treatment outcome were reviewed. The treatment outcome was evaluated according to the postoperative treatment protocol in the high-risk group. RESULTS: Intermediate-risk patients were treated with conventional chemotherapy, isotretinoin (ITT) and interleukin-2 (IL-2). High-risk patients were treated with peripheral blood stem cell transplantation (PBSCT), ITT, and IL-2 (N = 11). Before the introduction of PBSCT, the high-risk patients were also treated with the conventional chemotherapy (N = 19). Intermediate-risk patients (N = 5) currently have no evidence of disease (NED). For the high-risk patients (N = 32), 19 patients were treated with chemotherapy alone; 15 patients died of their disease while four patients currently have an NED status. Eight of 11 patients that underwent PBSCT are currently alive. CONCLUSIONS: For intermediate risk, conventional chemotherapy appears to be acceptable treatment. However, for high-risk patients, every effort should be made to control residual disease including the use of myeloablative chemotherapy, differentiating agents and immune-modulating agents.

Why Do the Patients with Hirschsprung Disease Get Redo Pull-Through Operation?

INTRODUCTION: The treatment of Hirschsprung disease (HD) is pull-through (PT) surgery. Redo PT can be performed in 1 to 10% of patients after initial PT. In this study, we reviewed the causes and associated factors of redo PT. MATERIALS AND METHODS: We retrospectively reviewed medical charts of 657 patients with HD who underwent surgeries between September 1979 and January 2016. The indications for redo PT are as follows. First, there were persistent obstructive symptoms after the first operation, (1) with transition zone shown definitely on contrast study, (2) with anatomic problems, and (3) obstructive symptoms persist despite conservative or nonredo surgical treatment without (1) and (2). We analyzed the causes and associated factors of redo PT. RESULTS: A total of 49 (7.5%) patients underwent redo PT. Among them, 41 and 8 patients underwent PT twice and three times, respectively. Among 57 cases of redo, the causes of redo included pathologic problem (n = 28)-aganglionosis (n = 20), hypoganglionosis (n = 4), immature ganglion cell (n = 4)-or anatomic problem (n = 21)-stricture (n = 13), fistula and/or abscess (n = 8) at anastomosis. Comparing associated factors between the nonredo and redo groups, the redo group had longer initial PT operation time (p = 0.001), more postoperative complications (p < 0.001), and more transanal endorectal PT (TERPT) approach as initial PTs (p < 0.001). According to causes of redo, the anatomic problem group underwent more third PTs than the pathologic problem group (p = 0.010). CONCLUSION: Approximately 7.5% of patients experienced redo PT. The cause of redo included pathologic (n = 28) or anatomic problem (n = 21). Longer operation time, more complications, and TERPT were associated with redo. The anatomic problem group underwent more third PTs than the pathologic problem group.

Association analysis of NOX5 polymorphisms with Hirschsprung disease.

BACKGROUND/PURPOSE: Hirschsprung disease (HSCR) is a developmental disease characterized by the absence of ganglion cells in the intestinal region. NADPH oxidase5 (NOX5) has been identified as one of the possible candidate genes for risk of Hirschsprung disease in our recent genome wide association study (GWAS). In this study, we performed a replication study to analyze the association of NOX5 polymorphisms with HSCR risk and conducted an extended analysis to investigate further associations for sub-groups and haplotypes. METHODS: A total of 23 NOX5 single nucleotide polymorphisms (SNPs) were genotyped in 187 HSCR patients and 283 unaffected controls. Statistical analysis was performed to examine the effects of genotype on risk of HSCR and HSCR subtype. RESULTS: Logistic regression analyses revealed that six SNPs (rs59355559, rs62010828, rs34990910, rs11856030, rs311905, and rs8024894) were associated with risk of HSCR (minimum p = 0.007 at rs62010828). Moreover, three SNPs (rs59355559, rs62010828, and rs8024894) were significantly associated with risk of long-segment HSCR (L-HSCR) subtype and 5 SNPs (rs59355559, rs62010828, rs34990910, rs11856030, and rs8024894) were found to be associated with risk of TCA subtype. CONCLUSION: Our results demonstrate that genetic variants in NOX5 have genetic effects on risk of HSCR, which may serve as useful preliminary information for further study. LEVELS OF EVIDENCE: Level III of prognosis study.

Inguinal hernia in preterms in neonatal intensive care units: Optimal timing of herniorrhaphy and necessity of contralateral exploration in unilateral presentation.

BACKGROUND: We sought to determine the optimal timing of IH repair in preterms and the need for routine contralateral exploration. METHODS: Medical records of 3690 pediatric patients who underwent unilateral IH repair between January 1998 and December 2009 were reviewed. We assessed medical record review and telephone interviews. In total, 1990 patients were enrolled in the study. Early, early-delayed, and late repair were defined as herniorrhaphy performed within 7 days of diagnosis, later than 7 days of diagnosis, and after discharge from the NICU, respectively. RESULTS: Of 1990 patients, 90 preterms and 1900 full-terms were included. Among these, 7, 11 and 72 preterm patients received early, early-delayed and late IH repairs, respectively. Preoperative incarceration and postoperative complication rates were not different, but the recurrence rate was higher in the early repair group. Two group analysis of early and early-delayed vs. late repairs indicated similar results. The rates of synchronous and metachronous bilateral IH (SBIH, MBIH) were observed to be higher and the diagnostic interval of MBIH was shorter in preterms than in full-terms (35.6% vs. 15.9%, P < 0.001; 12.2% vs. 6.3%, P < 0.001; 5.2 vs. 41.8 months, P = 0.003). CONCLUSION: Our results indicate that IH repair is safe to perform in preterm babies in the NICU at a delayed or late stage since the preoperative incarceration and recurrence rates were not different. Contralateral exploration could be considered in preterms because the rates of SBIH and MBIH were significantly higher and the MBIH diagnosis interval was shorter than in full-terms. LEVEL OF EVIDENCE: III, treatment study.

Prospective evaluation of clinical outcomes and quality of life after gastric tube interposition as esophageal reconstruction in children.

Few studies on gastric tube interposition for esophageal reconstruction in children have assessed the long-term outcomes and quality of life (QoL). The aim of this study is to evaluate the long-term outcomes and QoL after a gastric tube interposition by reviewing our experiences with esophageal reconstruction.Twenty-six patients were included who underwent gastric tube interposition from 1996 to 2011 at our institution. We reviewed the medical records and conducted telephone surveys, prospectively performed esophagography, endoscopy, 24-hour pH monitoring, and esophageal manometry. The median follow-up period of 12 (range, 3-18) years.Median age at the time of surgery and survey were 9 (range, 2-50) months and 12.4 (range, 3.1-19.0) years, respectively. There were 14 cases of reoperation of gross type C and B esophageal atresia (EA) and 10 cases of long gap pure EA. The z scores of anthropometric data at the survey did not increase after the operation. Severe stricture in esophagography was observed in 20% of patients, but improved with balloon dilation with intact passage. Gastroesophageal reflux was able to be treated with medications. Esophageal peristalsis was observed in 1 of 8 patients in manometry. No Barrett esophagus or metaplasia was not found from endoscopy. QoL was similar to the general population and did not differ between age groups.Gastric tube interposition could be considered for esophageal reconstruction in pediatric patients when native esophageal anastomosis is impossible. Nutritional evaluation and support with consecutive radiological evaluation to assess the anastomosis site stricture are advised.

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. METHODS: We enrolled 25 patients with CS, including 24 sporadic cases and one familial case. Direct sequencing of MNX1 and multiplex ligation-dependent probe amplification were performed. We also analyzed clinical phenotypes and evaluated genotype-phenotype correlations. RESULTS: We identified six novel variants amongst a total of six null variants, one missense variant, and one large deletion. The null variants included four frameshift variants (p.Gly98Alafs* 124, p.Gly145Alafs*77, p.Gly151Leufs*67, and p.Ala216Profs*5) and two nonsense variants (p.Tyr186* and p.Gln212*). The missense variant, p.Lys295Gln, was located in the highly-conserved homeobox domain and was predicted to be deleterious. A large deletion involving the 7q36 region was detected in one patient. Pathogenic variants in MNX1 were detected in 28% of all CS cases and 25% of sporadic cases. The clinical phenotype was variable in patients with and without pathogenic variants; no significant genotype-phenotype correlation was observed. CONCLUSIONS: This study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.

Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula.

PURPOSE: Congenital esophageal atresia (CES) is a rare congenital disease. The severity of symptoms is variable; thus, diagnosis is difficult and tends to be delayed. CES is frequently accompanied by esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). We investigated the characteristics of CES by reviewing our experience with CES patients and researched the differences between CES with EA-TEF and isolated CES. METHODS: A total of 31 patients underwent operations for CES were reviewed retrospectively. The patients were divided into two groups according to the association with EA-TEF, and compared the differences. RESULTS: Sixteen boys and 15 girls were included. The mean age at symptom onset was 8 months old, and the mean age at diagnosis was 21 months old. Nine patients with EA-TEF were included group A, whereas the other 22 patients were assigned to group B. There were no differences in sex, gestational age, associated anomalies and pathologic results between the groups. In group A, the age at diagnosis and age at surgery were younger than in group B despite the age at symptom occurrence being similar. Postoperative complications occurred only in group A. CONCLUSION: In this study, symptoms occurred during the weaning period, and vomiting was the most frequent symptom. CES patients with EA-TEF tended to be diagnosed and treated earlier despite the age at symptom occurrence being similar. CES patients with EA-TEF had more postoperative complications; therefore, greater attention should be paid during the postoperative period.

Pediatric cholecystectomy for symptomatic gallstones unrelated to hematologic disorder.

BACKGROUNDS/AIMS: Gallstones are being increasingly diagnosed in pediatric patients. The purpose of this study was to determine characteristics of pediatric patients who underwent cholecystectomy because of symptomatic gallstone disease unrelated to hemolytic disorder. METHODS: We reviewed cases of pediatric patients (under 18 years old) who underwent cholecystectomy between May 2005 and December 2015. RESULTS: A total 20 pediatric patients (under 18 years old) underwent cholecystectomy during the study period. One patient was excluded because cholecystectomy was performed due to gall stones caused by hemolytic anemia. The 19 cases comprised 9 male (47.3%) and 10 female (52.7%) subjects. The mean age was 14.9 years (range, 5-18), and 66.7% of patients were older than 12 years of age. Mean body weight was 65.0 kg (range, 13.9-93.3), and mean body mass index was 21.7 kg/m2 (range, 12.3-35.1), with 26.37% of patients being overweight. All 19 patients underwent laparoscopic cholecystectomy. There were no postoperative complications and no mortality. Comparison between overweight and non-overweight patients indicated that significantly more overweight patients had cholesterol stones (5/5 vs. 7/14, p=0.036) and were classified as complicated disease (3/5 vs. 1/14, p=0.037). CONCLUSIONS: The more frequent occurrence of complications such as choledocholithiasis or gallstone pancreatitis, in overweight patients indicates the need for more careful evaluation and management in these patients. Pediatricians and surgeons should always consider gallstone disease in pediatric patients despite difficulty in suspecting symptomatic gallstones in cases who present with abdominal pain that is rarely clear-cut.

Long-term functional outcomes of PPPD in children--Nutritional status, pancreatic function, GI function and QOL.

PURPOSE: The purpose of this study was to analyze the long-term outcomes, such as nutritional status, pancreatic function, gastrointestinal (GI) function, and quality of life (QOL), in children who underwent pylorus-preserving pancreaticoduodenectomy (PPPD). METHODS: Between 1992 and 2013, there were 15 children who underwent PPPD at Seoul National University Children's Hospital, and 10 of them participated in this study. A retrospective review of the patients' medical records and follow-up was done. Their nutritional statuses were estimated by height, body weight, weight for age Z-score, body mass index (BMI), and serum protein, albumin levels. The endocrine and exocrine functions of the pancreas were estimated by diabetes mellitus (DM), steatorrhea, and Bristol stool chart. The GI function and QOL were evaluated via questionnaires. The follow-up period ranged from 3 to 18years. RESULTS: There were no severe growth disturbances, 6 patients experienced mild steatorrhea and 3 showed above the category 6 in Bristol stool chart. All the patients experienced mild GI symptoms. As for the QOL, there were no significant negative answers, except for one patient with DM. CONCLUSIONS: Almost all the study subjects, who underwent PPPD in their childhood, did not present significant problems except for one patient with DM.

Currarino triad with Müllerian duct anomaly in mother and daughter without MNX1 gene mutation.

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Müllerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Müllerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Müllerian duct anomaly without MNX1 gene mutation, along with a brief literature review.

Meckel diverticulum in exomphalos minor.

A congenital hernia into the base of the umbilical cord is known as an exomphalos and when the size of the defect is 5 cm or less and containing only bowel, it is called as exomphalos minor. We present a case of a newborn with an exomphalos minor within a Meckel diverticulum. He underwent surgical resection of the Meckel diverticulum and repair of the abdominal wall defect. To our knowledge, this is the first reported case of Meckel diverticulum in an exomphalos minor in Korea.

Immunohistochemical studies of pediatric intestinal pseudo-obstruction: bcl2, a valuable biomarker to detect immature enteric ganglion cells.

To identify the diagnostic pitfalls as well as the value of immunohistochemical studies in making a pathologic evaluation of a pediatric intestinal pseudo-obstruction (IPO), this study reassessed the pathology of 87 surgically resected intestines from 80 patients under the impression of IPO and 10 normal controls using immunohistochemical studies. The main diagnostic pitfall was the interpretation of the enteric nervous plexuses in the transitional zone and the detection of the indistinct or immature neurons indistinguishable from enteric glial cells or satellite cells. Immunohistochemical study was a very helpful diagnostic adjunct to delineating the immature neurons (bcl2), the size of the enteric ganglia and neuromuscular innervation (S-100 protein, synaptophysin, and CD56), and the interstitial cell of Cajal (c-Kit) and myopathy (SMA). With help of immunohistochemistry, our series of IPO could classify as neuropathy (92.5%), myopathy (2.5%), and the idiopathic forms (3.8%) more clearly. In terms of the types of neuropathy, Hirschsprung's disease (HD), pure hypoganglionosis, and intestinal neuronal dysplasia (IND-B) were diagnosed in 71.3%, 6.3%, and 48.8% of patients, respectively. IND-B was associated with other neuropathies, HD in 77.0% and hypoganglionosis in 7.7%, rather than being present in a pure form. Immature ganglion cells were found in 48.8%. Because a reduced number of interstitial cells of Cajal was commonly associated with HD in 84.2%, hypoganglionosis in 40%, and IND-B in 76.9% of cases, it might be a preceding or aggravating factor related to an IPO. In terms of detecting immature ganglion cells, we found bcl2 most helpful.