Isolated intestinal neuronal dysplasia- type B of ileum: A rare occurrence

Intestinal neuronal dysplasia type B in the gastrointestinal tract is a rare occurrence and may occur alone or in combination with Hirschsprung disease. Distal colon seems to be a frequent site for isolated IND-B cases; however, small bowel involvement is scarcely reported. We report a case of 9 years old boy presenting with features of intestinal pseudo-obstruction for 5 years. Exploratory laparotomy revealed narrowed distal ileum with huge proximal dilatation. Histopathology of the resected terminal ileum revealed giant submucosal ganglion, hyperplastic submucosal nerves, and ectopic ganglion cells in the lamina propria suggestive of IND-B. Although IND-B involving ileum in isolation is a rare occurrence, suspicion should be kept in cases of intestinal obstruction with minimal response to conventional treatment.

Diagnostic efficacy of blood promoter methylation of Sox10 in intestinal neuronal dysplasia / 国际儿科学杂志

Objective To explore the efficacy of blood promoter methylation of Sox10 gene in diagnosis of intestinal neuronal dysplasia (IND) and to seek a non-invasive genetic diagnosis method based on peripheral blood for diagnosis of IND.Methods Children diagnosed as Hirschsprung disease (HD) or IND from the Shengjing Hospital of China Medical University and the Capital Institute of Pediatrics were enrolled in 2017-2018.The blood and colon specimens were collected from 9 IND,15 HD and 15 controls (the colon trauma cases).The blood promoter methylation of Soxl0 and its expression level in colon were both detected and the correlation between them was analyzed.The diagnostic efficacy of blood promoter methylation of Soxl0 was analyzed by receiver operating characteristics (ROC) curve.Results The blood promoter methylation level at the 32nd locus of Sox10 was 100％ (90％-100％;95％ CI:91％-98％) in the control,80％ (70％-90％;95％CI:65％-90％) in HD and 60％ (50％-80％;95％ CI:52％-82％) in IND.The expression level of Sox10 in the colon was (1.00 ±0.04) in the control,(2.75 ±0.16) in HD and (3.99 ±0.10) in IND.Western blot showed that the expression of Sox10 protein in the colon of the control group,the HD group and the IND group increased,and the difference was statistically significant (P ＜ 0.05).The blood promoter methylation level was negatively correlated with its expression level in colon (r =-0.88).ROC curve indicated area under curve (AUC) of Sox10 methylation in diagnosis of HD was 0.818,with a cut-off value of 85％ and low diagnostic sensitivity.The AUC in IND was 0.907,with a cut-off value of 85％,producing a sensitivity of 88.9％ and a specificity of 93.3％ respectively.Conclusion Blood promoter methylation of Sox10 might be used as a non-invasive method for diagnosis of IND.

The latest development in diagnosis and treatment of intestinal neuronal dysplasia / 临床儿科杂志

Intestinal neuronal dysplasia is a common disease of chronic constipation in children, which is one of the Hirschsprung disease allied disorders. In recent years, the diagnostic methods of intestinal neuronal dysplasia have been improved, but diagnostic criteria are not standardized yet. The treatments include conservative treatment and surgical treatment. Special attention should be paid to save the integrity of the anal canal during operation. Moreover, using intestinal transplantation of neural stem cells and small intestinal transplantation to treat intestinal neuronal dysplasia has gained increasing attention.

The clinical pathological analysis of intestinal neuronal dysplasia type B / 中国小儿急救医学

Objective To investigate the clinicopathological features and diagnosis of intestinal neu-ronal dysplasia type B.Methods Between January 2004 and August 2014 , 9 patients ( 5 males and 4 females) were treated for constipation and abdominal distention,and in all of them an intestinal neuronal dys-plasia type B was confirmed histopta holoig cally.The age of 9 patients ranged from 3 months to 1 year old ( mean 7.8 months) .The specimen of 9 patients was routinely takne by paraffin-embedded full-circumference sections of lesional bowel,hematoxylin and eosin and immunohits ochemical stainign were carried out on the specimen.The patholgo ical morphology and quantitative of inet stinal en urons and ganglia were retrospectively analyzed.Results Total of the 9 patients,the number and density of myenteric ganglia increased significant-ly increased in the lesional bowel,the pathological findings included giant nerve plexus,isolated and ectopic ganglia.In the proximal bowel,the number and density of myenteric ganglia were observed abnormal on giant nerev plexus, isoal ted and ectopci ganglia was osb erved.Combinated these pathological findings and symp-toms,intestinal neuronal dysplasia type B was diagnosed.Conclusion The diagnosis of ni testinal neuronal dysplasia type B relies on typical presentations of allied disorders of Hirschsprung′s disease,giant ganglia, isolated and ectopic ganglia,and increasing the density of giant submucosal ganglia of pathologic morpholo-gy,meanwhile,excludingo thers prima ry etiologies.

Clinicopathologic features of intestinal dysganglionosis in children / 临床儿科杂志

ObjectiveTo investigate the clinical and pathological features of Hirschprung disease (HD), intestinal neuro-nal dysplasia (IND) and hypoganglionosis (IH) in children.MethodsThe clinical data and pathologic slices from 238 children with intestinal dysganglionosis were retrospectively analyzed. The age, sex, involved intestinal length of children and prognosis were compared.ResultsIn 238 patients, 138 (58.0%) were diagnosed by rectal mucosal biopsies. There were 122 HD patients whose median age at diagnosis was 9 months and the ratio of male to female was 4.3:1, without involvement of whole colon. There were 45 IND patients whose median age at diagnosis was 14 months and the ratio of male to female was 1.05:1, and the whole colon of 33.3% patients was involved. There were two male IH patients whose ages at diagnosis were 12 years and 18 years respectively, and their whole colon was involved. There were 59 patients with HD complicated by IND whose median age at diagnosis was 13 months and the ratio of male to female was 5.56:1 and the whole colon of 16.9% patients was involved. There were 10 male patients with HD complicated by IH whose median age at diagnosis was 11.5 months and the whole colon of 80.0% patients was involved. The ages at diagnosis, the sex ratio, the rates of whole colon involved, and the cure rates among 5 groups were signiifcantly different (allP<0.01).ConclusionsThe rectal mucosal biopsy was the main method in diagnosis of intestinal dysganglionsis in children. Patients with HD had higher incidence and mild condition and favorable prognosis. Patients with IH or patients with HD complicated by IH had lower incidence rates and severe condition and poor prognosis, followed by patients with IND or patients with HD complicated by IND.

A comment on difficulties in diagnosis and treatment of Hirschsprung's disease allied disorders / 中华实用儿科临床杂志

Enteric nervous system abnormalities are the main cause of severe chronic constipation in children.These abnormalities are collectively known as intestinal dysganglionosis,including Hirschsprung's disease (HD),and Hirschsprung's disease allied disorders(HAD) such as immature ganglion,hypoganglionosis(HG) and intestinal neuronal dysplasia(IND).HD and HAD have similar clinical manifestations,and accurate diagnosis is challenging.In this paper,difficulties in diagnosis and treatment of HAD are introduced.

Intestinal Neuronal Dysplasia / 대한소화기학회지

Intestinal neuronal dysplasia (IND) type B is a disease of the submucosal plexus of intestine manifesting chronic intestinal obstruction or severe chronic constipation. IND is one of intestinal dysganglionoses and clinically closely associated with Hirschsprung's disease. Until recently, it is not fully clear whether IND is a congenital malformation or an acquired secondary condition related to some gastrointestinal problems. However, recently published data and consensus reports have enhanced our understanding of the pathogenesis and management of IND. The aim of this paper was to review the current state of knowledge regarding the controversial issues of IND including the etiology, classification, diagnostic criteria, and available therapeutic intervention.

Diagnosis and Treatment of Intestinal Neuronal Dysplasia / 实用儿科临床杂志

Objective To investigate pathogenic factors,clinical characteristics,pathological changes in 6 patients with localized or disseminated intestinal neuronal dysplasia(IND).Methods The clinical retrospective study was performed in 6 cases with localized and disseminated IND.Results In 6 patients,constipation and partial intestinal obstruction were the major symptoms.Preoperatively,dia-gnoses were revaluated as intestinal stenosis in 2 cases,long sigmoid in 2 cases and long-segment aganglionosis and total gastrointestinal IND in the rest 2 cases,respectively.Exploratory laparotomy was performed on all these patients.Pathological study suggested that 4 of them were localized IND,on whom enterectomy and intestinal anastomosis were performed successfully.However,2 cases of disseminated IND died postoperatively.Conclusions Disseminated IND may be caused by congenital factors,while localized IND by the acquired factors which including intestinal obstruction,local ischemia or inflammation.The surgical interventions are effective for localized IND,and intestine transplantation might be prospective treatment for disseminated IND.

Intestinal Neuronal Dysplasia in Twins / 대한소아소화기영양학회지

Intestinal neuronal dysplasia (IND) is a disorder of abnormal intestinal innervation resulting in dysfunctional colonic motility. IND shares clinical features with Hirschsprung's disease but differentiated by histological findings such as hyperplasia of submucosal and myenteric plexuses, giant ganglia, ectopic ganglion cell and increased acetylcholinesterase activity in lamina propria. Although IND may exist as an isolated condition, more commonly, it occurs in association with Hirschsprung's disease. We report a case of twins affected with IND. Both children manifested with delayed passage of meconium and severe abdominal distention after birth. Barium enema in both patients showed microcolon. They underwent emergency ileostomy under the impression of total aganglionosis. But surgical biopsy specimens showed hyperganglionosis in submucosa with formation of giant ganglia. Both neonates suffers from several episodes of peudo-obstruction after the repair operation of colostomy.

A Case of Intestinal Neuronal Dysplasia

Intestinal neuronal dysplasia(IND) is a disease characterized clinically by symptoms of intestinal obstruction and pathologically by hyperplasia of the submucosal and myenteric plexuses with formation of giant ganglia. Chronic intestinal pseudo-obstruction is a clinical diagnosis, composed of myopathic form and neuropathic form, and normal intestinal histology. Intestinal neuronal dysplasia is a neuropathic form of chronic intestinal pseudo-obstruction. The clinical presentation and the course of IND is very variable. We experienced a case of intestinal neuronal dysplasia in a 5 year-old boy who had suffered from recurrent abdominal pain and vomiting for 3 years. Small bowel series showed multiple intestinal dilatations and delayed excretion of contrast media. He underwent exploratory laparotomy. However no mechanical causes for markedly dilated intestine were found and he received loop ileostomy. However, he suffered from recurrent vomiting and abdominal pain. So, he received repair-operaton. The pathology of surgical specimen showed hyperplasia of the submucosal and myenteric plexuses with giant ganglia. We report this case with a brief review of the related literatures.