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.

Molecular and Cellular Characteristics of the Colonic Pseudo-obstruction in Patients With Intractable Constipation

BACKGROUND/AIMS: Chronic intestinal pseudo-obstruction (CIPO) is a disorder characterized by recurrent symptoms suggestive of obstruction such as abdominal pain, proximal distension with extremely suppressed motility in the absence of lumen-occluding lesion, whose etiology/pathophysiology is poorly understood. In this study we investigated a functionally obstructive lesion that could underlie symptoms of CIPO. METHODS: We studied colons surgically removed from 13 patients exhibiting clinical/pathological features of pseudo-obstruction but were unresponsive to standard medical treatments. The colons were characterized morphologically, functionally and molecularly, which were compared between regions and to 28 region-matched controls obtained from colon cancer patients. RESULTS: The colons with pseudo-obstruction exhibited persistent luminal distension proximally, where the smooth muscle was hypertrophied with changes in the cell phenotypes. Distinct luminal narrowing was observed near the distal end of the dilated region, close to the splenic flexure, previously referred to as the "transition zone (TZ)" between the dilated and non-dilated loops. Circular muscles from the TZ responded less to depolarization and cholinergic stimulation, which was associated with down-regulation of L-type calcium channel expression. Smooth muscle contractile protein was also downregulated. Myenteric ganglia and neuronal nitric oxide synthase (nNOS) positive cells were deficient, more severely in the TZ region. Interstitial cells of Cajal was relatively less affected. CONCLUSIONS: The TZ may be the principal site of functional obstruction, leading to proximal distension and smooth muscle hypertrophy, in which partial nNOS depletion could play a key role. The neuromuscular abnormalities probably synergistically contributed to the extremely suppressed motility observed in the colonic pseudo-obstruction.

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.

Constipación crónica, a propósito de dos casos / Chronic constipation, a case report

Presentamos dos casos clínicos de pacientes atendidos en el hospital del Niño Dr. Ovidio Aliaga Uría, que corresponden a una constipación crónica de causa orgánica debidas a una hipoganglionosis y enfermedad de Hirschsprung. Aprovechamos el tema para hacer una revisión del mismo.

We present two clinical cases of patients seen at Childrens’Hospital “Ovidio Aliaga Uria”, suffering from organic chronic constipation due to a hypoganglionosis and Hirschsprung’s disease. We decided to revise the subject.

Laparoscopically Assisted Total Colectomy with J-pouch Formation for Intractable Chronic Constipation due to Hypoganglionosis: A Case Report / 대한내시경복강경외과학회지

Chronic constipation has been successfully treated with specific medications and bio-feedback therapy. Surgical manipulation for this condition can be an option when non-surgical interventions fail. We report here on a patient who was diagnosed as having intractable chronic constipation with hypoganglionosis. The patient was a 60 year-old male with the history of seizure and diabetes. This patient did not gain any clinical benefits from non-surgical regimens. Therefore, we performed a laparoscopically assisted total colectomy with J-pouch ileorectal anastomosis on this patient. The patient recovered from the surgery without complications and he had normal bowel functions. The postoperative anatomical pathology revealed a hypogaglionosis. In conclusion, a laparoscopically assisted total colectomy for a patient with intractable chronic constipation with hypoganglionosis is a good option and it may be a curative method.

A Case of Adult Type Colonic Hypoganglionosis / 대한소화기내시경학회지

Hypoganglionosis is a rare form of intestinal neuronal malformation, which is characterized by scarce ganglia and a reduced number of parasympathetic nerves in the intestinal wall. The pathogenesis of intestinal neuronal malformation is mainly attributed to developmental disorders of the enteric nervous system (ENS). Furthermore, the ENS can be damaged during the postnatal period by ischemic, inflammatory, autoimmunological process or neurotoxic agents. Subsequently abnormalties of the ENS may cause chronic constipation or ileus. Intestinal neuronal malformation should be suspected in patients with a history of chronic stool retention and appropriate radiographic findings. Hypoganglionosis is extremely difficult to establish the diagnosis histochemically unless full-thickness biopsies are performed. Recently we experienced a case of adult type hypoganglionosis, which is assumed to be an acquired type. It was treated with right hemicolectomy.

Pseudo-Hirschsprung's Disease Due to Total Intestinal Hypogenesis

Intestinal hypogenesis is a rare cause of functional intestinal obstruction and shows both diminished numbers of ganglion cells and immature ganglion cells. We report a case of intestinal hypogenesis extending from the rectum to the proximal jejunum. A male newborn was noted to have a neonatal intestinal obstruction, and a laparotomy at 4 days of age proved the existence of intestinal hypogenesis. Histologic examination showed immature ganglion cells (cell body, 6.0+/-0.037 micrometer; nucleus, 4.1+/-0.028 micrometer; nucleoli, 0 micrometer in diameter) and hypoganglionosis. At 46 days of age, a reoperation was done, and the intestinal hypogenesis was proved to extend from the proximal jejunum to the rectum. Maturation of the ganglion cells in the small bowel (cell body, 9.3+/-0.28 micrometer; nucleus, 6.3+/-0.61 micrometer; nucleoli, 1.2+/-0.04 micrometer in diameter) was observed compared to initial study. However, the infant had persistent functional intestinal obstruction and was continued on parenteral nutrition with the hope of further maturation of the ganglion cells and improvement of the intestinal motility. Unfortunately, he was discharged against advise at 72 days of age and died. The maturation of the ganglion cells in this case suggests that this entity should not deemed hopeless.

A Case of Localized Hypoganglionosis

The hypoganglionosis is a relatively rare disease. Most of the hypoganglionosises are presented as congenital megacolon and diagnosed at early life. But some of them are diagnosed at adult. The localized hypoganglionosis, which is spared at rectum, is very rare. I experienced a case of localized hypoganglionosis which is localized at the left colon. So I reported it and reviewed related literatures.