Diagnosis Of Chronic Intestinal Pseudo-obstruction Research Articles

S2471 Using Prokinetic Agents in Chronic Intestinal Pseudo-Obstruction (CIPO)

Introduction: Chronic intestinal pseudo-obstruction (CIPO) is a rare disease. Dilatation may involve the colon or small bowel and is usually due to an underlying neuropathic disorder. Clinical manifestations of CIPO include abdominal distention, bloating, and pain, which can be acute, chronic, or recurrent. Diagnosis of CIPO should be suspected in patients with these symptoms for at least 3 months in the absence of a mechanical cause. Diagnosis requires exclusion of mechanical obstruction and other causes of dysmotility (Table). Case Description/Methods: This is a case of a 62-year-old male presenting with 3 weeks of worsening abdominal pain and distention. History includes colon cancer with sigmoid resection/colostomy reversal, alcohol use disorder, and L5-S1 fusion on chronic opioids. He had 2 recent hospitalizations for similar symptoms thought to be due to non-obstructive ileus. At that time, colonoscopy showed significant colonic dilation with no masses or strictures. He was endoscopically decompressed and started on methylnaltrexone with relative improvement during a prior hospitalization. On this presentation, he had a massively distended abdomen with minimal tenderness. He was initially managed conservatively with bowel rest, rectal tube, and avoidance of opioids. However, serial abdominal X-rays showed no improvement in dilation (Figure). He was started on pyridostigmine with significant improvement in dilation and had normal bowel movements prior to discharge. Discussion: This patient had recurrent CIPO with multiple admissions without complete resolution of previously suspected non-obstructive ileus despite conservative management and methylnaltrexone. Imaging was consistent with severe colonic dilation. As the patient had no improvement with conservative management, he was started on a trial of pyridostigmine after which he had significant improvement of bowel dilation on X-ray with normal bowel movements, illustrating the role of prokinetics in treating suspected CIPO. Knowledge of CIPO is important to prevent delays in diagnosis. Intervention focuses on diet and treatment of the underlying disease. For patients with symptoms despite dietary modifications, prokinetics such as prucalopride or pyridostigmine can be used for symptomatic relief. Pyridostigmine has demonstrated efficacy in the chronic phase of CIPO in small observational studies and is more commonly used in pediatric CIPO. Through this case, prokinetic agents show promise for broader use in adult CIPO cases.Figure 1.: Abdominal X-Rays of patient before (A) and after (B) use of pyridostigmine showing improvement of colonic pseudo-obstruction. Table 1. - Acute Intestinal Pseudo-Obstruction vs Chronic Intestinal Pseudo-Obstruction (CIPO) Acute Intestinal Pseudo-Obstruction Chronic Intestinal Pseudo-Obstruction Prevalence 100 per 100,000* 0.80-1.00 per 100,000 Course Acute Chronic Presentation Abdominal distention Abdominal distention Cramping pain Abdominal pain Nausea/vomiting Bloating Anatomic involvement Colonic dilatation, usually cecum, right colon Colonic or small bowel dilatation Pathophysiology Multifactorial Neuropathic disorder of enteric or extrinsic nervous system Autonomic dysfunction strongly implicated Myopathic disorder of smooth muscle Malfunction of interstitial cells of Cajal Management Fluid resuscitation, correction of electrolyte abnormalities, avoidance of opioids/ anticholinergics Dietary modification, treatment of underlying disease Ambulation, bowel rest Prokinetics, such as Prucalopride, for symptomatic relief (Grade 2C) Decompression with nasogastric or rectal tubes Pyridostigmine in chronic phase of CIPO Pharmacologic treatment with neostigmine Operative intervention in cases of colonic perforation or ischemia *Inpatient admissions.

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.

The diagnosis of chronic intestinal pseudo-obstruction has depended on clinical features, manometry, and imaging. This report aimed to determine the efficacy of sequencing the actin γ-2 (ACTG2) gene for diagnosis. In addition, the goal was to determine how often a mutation would be found in our randomly collected cohort of probands and those probands published previously. Whole exome sequencing was performed in 4 probands with chronic intestinal pseudo-obstruction. Subsequently, only the ACTG2 gene was sequenced in another 24 probands (total 28). We analyzed published data of 83 probands and our 28 (total 111) and determined how many had pathogenic variants and the precise genotype. Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 of our probands and in 45 out of 83 published probands (49/111 [44.1%]). Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. Pooled gene sequencing results from 1 individual in each of 111 families enabled a precise diagnosis of an ACTG2 mutation in 49 (44%). The benefit to patients and families of early confirmation of a motility disorder not only helps avoid unnecessary intervention, but also enables institution of appropriate treatments and avoidance of secondary disorders such as malnutrition and poor growth. Knowledge of a pathogenic variant in a parent, with a 50% risk of recurrence, provides an opportunity for genetic counseling.

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome

Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12.2], and POLR1C [6p21.1]) genes, which are responsible for increased neuroepithelial apoptosis during embryogenesis resulting in the lack of neural crest cells involved in facial bone and cartilage formation. Altered function of the upper digestive tract has been reported, whereas severe dysmotility disorders have never been reported. We describe here the first case of TCS associated with histologically proven chronic intestinal pseudo-obstruction (CIPO) in humans. Case presentatios A 12-year-old boy with TCS due to TCOF1 gene deletion experienced nutritional difficulties and digestive intolerance from birth. CIPO was suspected during childhood because of severe intestinal dysmotility leading to enteral-jejunal nutrition intolerance and dependence on total parenteral nutrition. Diagnosis of CIPO with nervous abnormalities was histologically confirmed on a surgical rectal biopsy that showed enlarged ganglionic myenteric plexus. At the age of 9 years, an isolated colonic stenosis without dilatation responsible for severe abdominal pain and altered quality of life led to digestive derivation contributing to rapid disappearance of chronic abdominal pain. At the age of 12 years, the patient was still dependent on total home parenteral nutrition 7 days a week to maintain regular growth velocity. Recently, mice studies have pointed out the role played by TCOF1 in ganglionic cell migration in the foregut, suggesting that the synergistic haploinsufficiency of Tcof1 and Pax3, a transcription factor regulating the RET gene involved in disorders of neural crest cell development, probably results in colonic aganglionosis and may explain the association described here between TCS and CIPO. This case may correspond to this possible mechanism in humans. These findings and our clinical report suggest that CIPO may be assessed as unusual digestive manifestations in TCS with TCOF1 deletion.

PTU-106 Improved Survival and Independance from Parental Nutrition for Patients with Intestinal Dysmotility

Introduction Patients receiving home parental nutrition (HPN) for intestinal dysmotility have a poor 5 years survival of 68% and independence from HPN at 5 years of 12% (Lloyd et al. 20061). Only abdominal malignancy patients fared worse. We aimed to compare the same outcomes, at the same centre 10 years since this study to see if changes in practice had impacted these outcomes. Methods An institutional database of patients referred to the Leonard Jones Intestinal Failure Unit at St Marks Hospital was interrogated for patients who started HPN between 1/1/04-1/10/15 and had the primary cause of their intestinal failure recorded as ‘dysmotility’ or ‘other’. The discharge and outpatient letters of those patients were inspected. Patients were excluded if there was any mechanical obstruction, IBD or coeliac disease prior to starting HPN or insufficient clinical information to rule these out. Measured outcomes were survival, intestinal transplant and independence from HPN. Results 159 patients were identified as potentially having dysmotility. 91 were excluded because dysmotility was not the primary cause of the intestinal failure or there was insufficient information, leaving 68 for the final analysis. The median age of this cohort was 39 years (range 16–78) and 19% were male. In total there were 471.2 years of follow up since starting HPN (median 4.4 (range 0.03–26.9)). 21 patients (31%) had a bowel resection before starting HPN. Overall survival 91%, (n = 62, 5 died on HPN, 1 off HPN), intestinal transplant 4% (n = 3, all successful), 29% (n = 17) were independent of HPN. 5 year outcomes were available for 18 patients. Survival at 5 years was 84% and independence from HPN was 40%. There were no transplants in this group. 23 patients had a diagnosis of chronic intestinal pseudo-obstruction (CIPO), 18 primary and 5 secondary, median follow up was 4.2 years. Overall survival was 91% and independence from HPN was 40%. 4 had positive histological diagnosis of neuropathy and 4 of myopathy. Both secondary CIPO (n = 5) and neuropathic bowel (n = 4) were predictive of independence from HPN compared to other dysmotility diagnoses, secondary CIPO odds ratio 0.03 (95%CI 0.0015–0.6, p Conclusion Our recent data implies improved outcomes on HPN for patients with dysmotility, particularly patients with secondary CIPO. This may be due to advances in treatment of underlying conditions. Reference 1 Lloyd DA, Vega R, Bassett P, Forbes A, Gabe SM. Survival and dependence on home parenteral nutrition: experience over a 25-year period in a UK referral centre. Alimentary Pharmacol Ther 2006;24:1231–40 Disclosure of Interest None Declared

Intestinal pseudo-obstruction due to small bowel α-actin deficiency in a child with Ehlers–Danlos syndrome

Chronic intestinal pseudo-obstruction (CIPO) is a syndrome characterized by signs and symptoms of intestinal obstruction without a mechanical cause. In children, two main subtypes, the neuropathic and myopathic forms, are found [1]. A variety of pathological findings of the smooth muscle can result in clinical syndromes involving a motility disorder of the small or large intestine. Moreover, abnormalities of enteric innervation or intestinal muscle defects may be diffuse or involve limited tracts [1]. Deficiency of one of the isoforms of the cytoskeletal smooth muscle protein actin, aactin, involving the circular muscle of the jejunum, is known to induce CIPO both in adults and in children [2]. We report a unique case of a-actin deficiency associated with Ehlers– Danlos syndrome. A 14-year-old girl was urgently admitted because of shock with abdominal distension and severe dehydration. On plain abdominal X-rays, severe small and large bowel dilatation was noted. The patient’s history was negative for any previous medical or surgical condition. She had mandibular prognathism causing aerophagia and affecting speech and mastication. An urgent exploratory laparoscopy was carried out; dilatation of the ascending colon and terminal ileum were found. No perforation or necrosis was detected on inspection of the whole intestine. Two weeks later, persistent bowel dilatation necessitated ileostomy. The patient developed intestinal obstruction following ileostomy closure. Subsequently, several surgical intestinal deviation procedures were performed and after every attempt at reversal immediate reoperation was required. Ten months later, a definitive end ileostomy had to be fashioned 10 months later. Full-thickness biopsies of the ileum and colon were obtained. Histological examination with conventional (hematoxylin and eosin, H&E) staining appeared basically normal (Fig. 1a). Immunohistochemical assessment (NSE, S100, CD117) showed normal features of the enteric nervous system in both the small intestine and the colon, whereas immunohistochemistry for a-actin revealed decreased expression in the circular layer of the small bowel (Fig. 1b– d) and normal features in the colon. Skin biopsy performed after abdominal surgery, revealed hallmarks of disturbed fibrillogenesis and led to the diagnosis of Ehlers–Danlos syndrome, classical type (old type I) [3]. Abnormal intestinal findings often leading to intestinal perforation, especially in the colon, are observed in Ehlers– Danlos syndrome, although almost exclusively in patients with subtype IV [4]. As far as we know, no previous association has been described between Ehlers–Danlos syndrome and a-actin deficiency. The latter was probably the cause of CIPO in our patient (since the enteric nervous system appeared normal), causing impaired propulsion in the small bowel and pseudo-obstructive symptoms. The diagnosis of CIPO, in both adults and children, is often delayed, due a low index of suspicion and the fact G. Pelizzo ! G. Nakib ! V. Calcaterra Pediatric Surgery Unit, Department of Mother and Child Health, IRCSS Polyclinic S. Matteo Foundation, University of Pavia, Pavia, Italy

Pseudopneumoperitoneum in chronic intestinal pseudo-obstruction: A case report

Chronic intestinal pseudo-obstruction (CIPO) is a rare disease due to a severe gastrointestinal motility disorder which may mimic, on both clinical and radiological grounds, mechanical obstruction. We report a case of a 26-year-old woman who presented to our institution for plain abdominal radiography for referred long-lasting constipation with recurrent episodes of abdominal pain and distension. At X-ray, performed both in the upright and supine position, an isolated air-fluid level was depicted in the left flank, together with a number of radiological signs suggestive of pneumoperitoneum. First, subphrenic radiolucency could be observed in the upright film. Second, the intestinal wall of some jejunal loops appeared to be outlined in the right flank. Third, the inferior cardiac border was clearly depicted in the upright film. The patient however had no evidence of peritoneal signs but only hypoactive bowel movements. Unenhanced multi-detector computed tomography (MDCT) of the abdomen and pelvis was therefore performed. MDCT revealed abnormal air-driven distension of the small and large bowel, without evidence of extra-luminal air. All radiological signs of pneumoperitoneum turned out to be false-positive results. The patient was submitted to pan-colonoscopy and to anorectal manometry to rule out Hirshprung's disease, and was finally discharged with a diagnosis of CIPO.

Surgical treatment and prognosis of chronic intestinal pseudo-obstruction in children

Background/Purpose Chronic intestinal pseudo-obstruction (CIPO) is characterized by symptoms of intestinal obstruction in the absence mechanical blockage. The main objectives in the treatment of CIPO include maintenance of adequate nutrition and restoration of intestinal propulsion. Our aim was to document the results of surgical treatment and the long-term results of CIPO in children. Methods The cases of 22 children (14 boys and 8 girls) who underwent surgical treatment for CIPO between January 1985 and April 2004 were reviewed. Patients at initial presentation ranged in age from 1 day to 11 years (median, 3.5 months). The diagnosis of CIPO was based on clinical signs and symptoms, coupled with radiological and histological findings. Patients' outcomes fell into 4 groups, according to evaluations of oral intake, weight gain, and parenteral nutrition: expired, poor, fair, or good. Results In 3 cases of localized disease, both total gastrectomy and total colectomy were performed in combination. Of 19 cases of generalized disease, 7 patients received enterostomy and/or intestinal biopsy, followed by total colectomy and Duhamel operation. Another 4 of those 19 patients underwent enterostomy repair, and 2 were treated by small bowel resection. In terms of outcome, 5 patients were expired, 5 were classified as poor, 4 were described as fair, and 8 had outcomes that fell into the good category. In expired patients, the causes of death were either line-associated sepsis or hypovolemic shock associated with intestinal obstruction. The only cases in which the outcomes were good were cases in which there was evidence of intestinal neuronal dysplasias. Conclusion We suggest that operative treatment should be considered, because of a high probability of both difficult diagnosis and intractable symptoms, which are unresponsive to medical therapy.

Chronic intestinal pseudo-obstruction: pathogenesis, diagnosis and therapy

Chronic intestinal pseudo-obstruction (CIPO) is a rare disease in which a severe intestinal motility disorder impairs transit of chyme so that patients suffer from symptoms of a mechanical ileus without mechanical obstruction. CIPO may be a primary or secondary disorder due to muscular, neurologic, metabolic or endocrine disorders, but may also occur postinfectiously, postoperatively, following abdominal radiation or be caused by drugs or noxae. In severe cases, the typical history of (repeated) symptoms of mechanical obstruction leading to unsuccessful laparotomies will give key clues for diagnosis. If CIPO is suspected, mechanical obstruction must be searched for carefully by radiologic and endoscopic examinations. Histologic diagnosis usually demands full thickness biopsies of the intestinal wall. Small intestinal manometry allows diagnosis of CIPO even during oligosymptomatic intervals as well as differentiation between neuropathic and myopathic forms of the disease. The main therapeutic goals consist in: 1. Maintenance of an adequate nutritional state by oral and/or enteral nutrition; in severe cases home-parenteral nutrition may be required and particularly in children intestinal transplantation may be the ultima ratio. 2. Reconstitution of intestinal propulsion by prokinetic drugs. 3. Therapy of complications such as bacterial overgrowth and severe pain by antibiotics and specific surgical procedures. Unnecessary laparotomies should be strictly avoided because they may lead to adhesions and markedly complicate the clinical course.

Chronic intestinal pseudo-obstruction. Clinical symptomatology and course

Chronic intestinal pseudoobstruction (CIP) is a motility disorder clinically characterized by recurrent symptoms of small intestinal or large bowel obstruction without organic stenosis. The aim of the present study was to assess the clinical presentation and course of the disease. During a four year period all available data including the symptoms as assessed by the bowel disease questionnaire (BDQ) of all patients with newly established diagnosis of CIP were analyzed including duration of symptoms and previous surgical interventions due to the abdominal symptoms. Data of nine patients (five females, four males, age 20 - 64 years) with newly diagnosed CIP were available for analysis. Median age at initial onset of symptoms were 24 years. The final diagnosis of CIP was established after a median of 7 years (range 1 - 20). Initially, the majority of patients suffered from uncharacteristic symptoms such as abdominal fullness and abdominal pain. All patients had undergone repeated abdominal surgical interventions for suspected mechanical bowel obstruction. On average, the first surgical intervention was performed 5 years after the onset of symptoms and there was a median number of 10 treatments as in-patients. Suspected acute bowel obstruction occurred between 1 and 14 times and laparotomies were performed in 50 % of these events. The diagnosis of CIP is usually preceded by several years with uncharacteristic abdominal symptoms. During this time, most patients undergo multiple surgical interventions. Thus, in patients with repeated suspected acute bowel obstruction without definite proof of mechanical obstruction, CIP has to be taken into consideration as differential diagnosis. In this context, small bowel manometry is an important diagnostic tool.

Cosegregation of familial intestinal pseudoobstruction and presence of digital arches in a large multigenerational pedigree

Previous studies have suggested a relationship between the presence of digital arches and the occurrence of early-onset chronic intestinal pseudoobstruction (CIP). We recently had under our care a patient who died of complications from neuropathic familial CIP (FCIP) and who had family members with symptoms and radiographic findings consistent with FCIP. Our aim was to determine if there is a relationship between FCIP and digital arches using members of this patient's family tree. Questionnaires, telephone follow-up, and clinical and radiographic evidence were all utilized to determine whether a diagnosis of CIP could be made for the family members of this deceased FCIP patient. Fingerprints were sought for all study subjects. Eight of the 26 study subjects who were fingerprinted had clinically diagnosed FCIP and four of these eight had radiographic confirmation. All eight were positive for one or more arches (sensitivity = 100%). Only one of the 18 subjects without a diagnosis of FCIP who were fingerprinted had arches (specifically 94%). The likelihood of linkage between the presence of digital arches and FCIP in our study family was significant by genetic linkage analysis criteria. These results show a significant correlation between FCIP and digital arches (P < 0.0001). Whether this relationship is a causal one, ie, the gene responsible for digital arches is also responsible for FCIP, or is the result of linkage between the genes for FCIP and digital arches remains unclear.

Chronic intestinal pseudo-obstruction

Chronic intestinal pseudo-obstruction (CIP) is one of the four major categories into which diseases causing chronic benign intestinal failure can be classfied. 1 Patients with CIP constitute about 5% of those on home parenteral nutrition (HPN) in France, the UK and the USA. 2-5 In the Italian HPN register, 6 patients with intestinal obstruction represent about 12% of the total, but no distinction is made between organic obstruction and CIP. There are fewer data on home enteral nutrition (HEN). In a survey of 3708 HEN patients, Howard reported that 3.5% had motility disorders. 7 Comparable data from the Italian HEN register 8 indicate that motility disorders accounted for 1.5% of 829 patients with benign disease. CIP is caused by the failure of the intestine to propel its contents. This leads to signs and symptoms of bowel obstruction in the absence of a demonstrable occluding lesion. 9,1° The disordered propulsion may be due to dysfunction of either the smooth muscle or the enteric nerves or both. Primary or idiopathic CIP, is a heterogeneous group of diseases in which a primary alteration of smooth muscle or the myoenteric plexus has been demonstrated. Some of these diseases are familial, others are sporadic (familial visceral myopathy, familial visceral neuropathy, achalasia, Hirsprung's hypertrophic pyloric stenosis). CIP can also be secondary to a number of other circumstances. These include systemic diseases which involve smooth muscle (connective tissue diseases, mainly scleroderma, muscular dystrophies, amyloidosis, ceroidosis); neurological disorders (primary autonomic dysfunction, multiple sclerosis, Parkinson's disease, diabetic polyneuropathy, Chagas' disease); endocrine and metabolic disorders (hypothyroidism, hypoparathyroidism, uraemia, acute intermittent porphyria); drugs (opiates, anticholinergic agents, chemotherapy, anti-depressants, tranquillisers, antiParkinsonian, anthraquinones) and a variety of unclassifiable causes (post-operative pseudo-obstruction, jejunoileal bypass, organ transplant, paraneoplastic and radiation injury). When considering both primary and secondary CIP, more cases arise from visceral myopathies than from visceral neuropathy. T]he myopathy which accompanies scleroderma is the most frequent. CIP in children affects both sexes equally, whereas in adults a female:male ratio of 2:1 has been reported. The clinical manifestations of CIP depend on the site and extent of gastrointestinal tract involved and the cause and severity of the abnormal motility. Abdominal pain, distension and vomiting are the main clinical features. Involvement of the oesophagus may produce dysphagia, regurgitation and chest pain. Localisation to the stomach causes gastroparesis with epigastric bloating and pain, nausea and vomiting. Small intestinal involvement often causes bacterial overgrowth and the stagnant loop syndrome, which may lead to diarrhoea and steatorrhoea. Localisation to the colon leads to constipation. Signs and symptoms of malnutrition as consequence of reduced intake, malabsorption or intraluminal consumption of nutrients may also contribute to the clinical features. Diagnosis of CIP relies on techniques such as radiography, scintigraphy and tracer studies for gastrointestinal transit evaluation, and manometry and histopathology. Treatment of C1P involves drugs which act on gastrointestinal motility, antibiotics for bacterial overgrowth, surgery directed at specific problems, and home artificial nutrition. None of the treatments are curative or halt any of the disorders that cause CIP, except for some types of CIP which are secondary to systemic disease. For example, thyroid disease responds favourably to treatment, but scleroderma and diabetic enteropathy do not. Patients with extensive involvement of the small intestine have the most severe features of CIP and are those who may require HPN. In these patients the prokinetic agents metoclopramide and domperidone appear to be ineffective. The uncontrolled use of cisapride in 106 patients improved the symptoms in most of them, 11 however, in another study, although it decreased intestinal transit time in patients with CIP, a controlled trial of long-term therapy did not confirm its usefulness. 12 Erythromycin induces the migrating motor complex and has been used in a few patients, but its efficacy

Colonic manometry in children with chronic intestinal pseudo-obstruction.

Pressure changes were evaluated in the transverse, descending, and rectosigmoid colon of 30 children with chronic intestinal pseudo-obstruction. Twenty two had severe lifelong constipation and eight had symptoms suggesting a motility disorder exclusively of the upper gastrointestinal tract. Based on prior antroduodenal manometry, 24 children were diagnosed as having a neuropathic and six a myopathic form of intestinal pseudo-obstruction. On the day of study, endoscopy was used to place a manometry catheter into the transverse colon and intraluminal pressure was recorded for more than four hours. After a baseline recording, we gave a meal to assess the gastrocolonic response. Colonic contractions were noted in 24 children. The six children with no colonic contractions had a hollow visceral myopathy and constipation. In the children with colonic contractions, fasting motility did not differentiate children with and without constipation. After the meal, in all eight children without constipation there was (1) an increase in motility index (3.2 (SEM 0.3) mm Hg/min basal v 8.4 (SEM 1.1) mm Hg/min postprandial; p < 0.001), and (2) at least one high amplitude propagated contraction (HAPC). In the 16 constipated children with colonic contractions the motility index did not significantly increase after the meal (2.1 (SEM 0.3) mm Hg/min basal v 3.1 (SEM 0.4) mm Hg/min postprandial) and 12 of them had no HAPCs (p < 0.01 v group without constipation). In summary, in children with a clinical diagnosis of chronic intestinal pseudo-obstruction, constipation is associated with absence of HAPCs, and the gastrocolonic response or with total absence of colonic contractions. It is concluded that studies of colonic manometry are feasible in children and may document discrete abnormalities in those with intestinal pseudo-obstruction with colonic involvement.

Isolated intestinal myopathy resembling progressive systemic sclerosis in a child

A 15-yr-old girl had a life-threatening episode of toxic megacolon at age 6 yr and a life-long history of constipation and abdominal distention. A diagnosis of chronic intestinal pseudoobstruction was made. Her clinical course was that of repeated bouts of pseudoobstruction, multiple episodes of intestinal volvulus at different sites, and progressive cachexia. Histologic examination of specimens of jejunum, ileum, appendix, and colon revealed progressive fibrotic changes in intestinal smooth muscle. The abnormalities observed are most consistent with those described in progressive systemic sclerosis, but no cutaneous manifestations of this disorder have been noted in this child, and no abnormalities in other organs have been detected. Thus, this patient represents a childhood case of chronic intestinal pseudoobstruction caused by a disorder closely resembling progressive systemic sclerosis confined to the gastrointestinal tract.

12 Pseudo-obstruction syndromes

Chronic intestinal pseudo-obstruction (CIP) is a clinical syndrome characterized by symptoms and signs of intestinal occlusion, in absence of any mechanical obstruction of the gut lumen. It causes impaired transit of intestinal contents and is determined by abnormalities of motor activity. The term CIP is used to indicate a heterogeneous group of disorders with many different pathogenic mechanisms. The defect in the regulation of intestinal transit can be at any level of motility control. Two main types of CIP are recognized, termed respectively myogenic (when smooth muscle cells are affected) and neurogenic (caused by abnormalities of extrinsic and/or intrinsic nervous supplies). Both types may be secondary to a variety of recognizable diseases or idiopathic. In myogenic CIP, intestinal transit is impaired because of lack of propulsive strength; in the neurogenic form, contractions are powerful but not sufficiently co-ordinated to propel intestinal contents aborally in an organized fashion. CIP belongs to the large and loosely defined group of digestive functional disorders. These disorders probably share common pathogenic mechanisms but with different expressiveness. The reasons why only some patients present recurrent symptomatological bouts resembling mechanical occlusion has not been clarified. This aspect is of great clinical relevance and deserves attention, as CIP patients, unlike other patients with severe functional disorders, may undergo repeated, useless and potentially dangerous operations. The diagnosis of CIP may be suggested by clinical features and is based on radiological, endoscopic, manometric, and histological findings. Recent technological improvements facilitate the recognition of this intriguing syndrome. In particular, manometric recording of the small bowel motility, which has long been considered an important research technique, can now also be regarded as a useful diagnostic tool.

7 - Recurrent or Chronic Intestinal Pseudo-obstruction

Recurrent or chronic intestinal pseudo-obstruction is not a rare problem. More cases will be recognized and diagnosed when clinicians are more aware of this problem. Medical treatment is unsatisfactory in most cases unless the patients have such treatable associated systemic diseases as myxoedema, hypoparathyroidism or phaeochromocytoma. Intermittent antibiotic therapy may be needed to alleviate diarrhoea or steatorrhoea due to bacterial overgrowth in the small intestine. Surgery may help to relieve the symptoms in those cases with short segmental dilatation of the bowel. Most patients will have an exploratory laparotomy to rule out an organic obstructing lesion. Either a drainage procedure or resection of a short dilated segment should be carried out. Once the diagnosis of chronic intestinal pseudo-obstruction is made, repeated exploratory operations must be avoided. Preoperative antibiotic therapy to treat bacterial overgrowth in the small bowel will reduce postoperative peritonitis from peritoneal soiling by septic small bowel contents.