Motility Disorders and Hirschsprung Disease

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Chapter 324 Motility Disorders and Hirschsprung Disease

324.1 Chronic Intestinal Pseudo-Obstruction

Chronic intestinal pseudo-obstruction comprises a group of disorders characterized by signs and symptoms of intestinal obstruction in the absence of an anatomic lesion. Pseudo-obstruction can occur as a primary disease or be secondary to a large number of conditions that can transiently or permanently alter bowel motility. Pseudo-obstruction represents a wide spectrum of pathologic disorders from abnormal myoelectric activity to abnormalities of the nerves (intestinal neuropathy) or musculature (intestinal myopathy) of the gut. The organs involved can include the entire gastrointestinal tract or be limited to certain components, such as the stomach or colon. The distinctive pathologic abnormalities are considered together because of their clinical similarities.

Most congenital forms of pseudo-obstruction occur sporadically. A few clusters of autosomal dominant or recessive patients have been reported as having cases associated with abnormal gut muscle or nerves. Patients with autosomal dominant forms of pseudo-obstruction have variable expressions of the disease. Acquired pseudo-obstruction can follow episodes of acute gastroenteritis, presumably resulting in injury to the myenteric plexus.

In congenital pseudo-obstruction, abnormalities of the muscle or nerves can be demonstrated in most cases. In muscular disease, the outer longitudinal muscle layer is replaced by fibrous material. In neuronal disease, there may be disorganized ganglia, hypoganglionosis, or hyperganglionosis. Abnormalities in the interstitial cells of Cajal (potential gut pacemaker) have been demonstrated in some children and mitochondrial defects have been found in others. Genetic defects have been identified in the transcription factor SOX10, the DNA polymerase gamma gene (POLG), and a locus on chromosome 8.

Clinical Manifestations

More than half the children with congenital pseudo-obstruction experience symptoms in the first few months of life. Two thirds of the infants presenting in the first few days of life are born prematurely, and about 40% have malrotation of the intestine. In 75% of all affected children, symptoms occur in the first year of life, and the remainder become symptomatic in the next several years. The most common symptoms are abdominal distention and vomiting, which are present in 75% of affected infants. Constipation, growth failure, and abdominal pain occur in about 60% of patients, and diarrhea occurs in 30-40%. The symptoms wax and wane in the majority of the patients; poor nutrition, psychological stress, and intercurrent illness tend to exacerbate symptoms. Urinary tract and bladder involvement occurs in 80% of children with myopathic pseudo-obstruction and in 20% of those with neuropathic disease. Symptoms can manifest as recurrent urinary tract infection, megacystis, or obstructive symptoms.

The diagnosis of pseudo-obstruction is based on the presence of compatible symptoms in the absence of anatomic obstruction. Plain abdominal radiographs demonstrate air-fluid levels in the small intestine. Neonates with evidence of obstruction at birth have a microcolon. Contrast studies demonstrate slow passage of barium; water-soluble agents should be considered. Esophageal motility is abnormal in about half the patients. Antroduodenal motility and gastric emptying studies have abnormal results if the upper gut is involved (Table 324-1). Manometric evidence of a normal migrating motor complex and postprandial activity should redirect the diagnostic evaluation. Anorectal motility is normal and differentiates pseudo-obstruction from Hirschsprung disease. Full-thickness intestinal biopsy might show involvement of the muscle layers or abnormalities of the intrinsic intestinal nervous system.


Esophageal motility Abnormalities in approximately half of CIPO, although in some series up to 85% demonstrate abnormalities
Decreased LES pressure
Failure of LES relaxation
Esophageal body: low-amplitude waves, poor propagation, tertiary waves, retrograde peristalsis, occasionally aperistalsis
Gastric emptying May be delayed
ECG Tachygastria or bradygastria may be seen
ADM Postprandial antral hypomobility is seen and correlates with delayed gastric emptying
Myopathic subtype: low-amplitude contractions, <10-20 mm Hg
Neuropathic subtype: contractions are uncoordinated
Fed response is absent
Fasting MMC is absent, or MMC is abnormally propagated
Colonic No gastric reflex because there is no increased motility in response to a meal
ARM Normal rectoanal inhibitory reflex (RAIR)

ADM, antroduodenal manometry; ARM, anorectal manometry; CIPO, chronic intestinal pseudo-obstruction; EGG, electrogastrography; GI, gastrointestinal; LES, lower esophageal sphincter; MMC, migrating motor complex.

* Findings can vary according to the segment(s) of the gastrointestinal tract that are involved.

From Wyllie R, Hyams JS, editors: Pediatric gastrointestinal and liver disease, ed 3, Philadelphia, 2006, Saunders.

The differential diagnosis includes Hirschsprung disease, other causes of mechanical obstruction, psychogenic constipation, neurogenic bladder, and superior mesenteric artery syndrome. Secondary causes of ileus or pseudo-obstruction, such as hypothyroidism, opiates, scleroderma, Chagas disease, hypokalemia, diabetic neuropathy, amyloidosis, porphyria, angioneurotic edema, mitochondrial disorders, and radiation, must be excluded.


Nutritional support is the mainstay of treatment for pseudo-obstruction. Thirty to 50% require partial or complete parenteral nutrition. Some patients can be treated with intermittent enteral supplementation, whereas others can maintain themselves on selective oral diets. Prokinetic drugs are generally not useful. Isolated gastroparesis can follow episodes of viral gastroenteritis and spontaneously resolves, usually in 6-24 mo. Erythromycin, a motilin receptor agonist, and cisapride, a serotonin 5-HT4 receptor agonist, can enhance gastric emptying and proximal small bowel motility and may be of use in this selected group of patients. Pain management is difficult and requires a multidisciplinary approach.

Symptomatic small bowel bacterial overgrowth is usually treated with oral antibiotics or probiotics. Bacterial overgrowth can be associated with steatorrhea and malabsorption. Although unabsorbable antibiotics remain the treatment of choice, courses of other antibiotics may be introduced and used judiciously to help counteract the possible emergence of drug-resistant bacteria. The long-acting somatostatin analog octreotide has been used in low doses to treat small bowel bacterial overgrowth. Patients with acid peptic symptoms are treated with acid suppressors. Many benefit from a gastrostomy and some benefit from decompressive ileostomies or colostomies. Colectomy with ileorectal anastomosis is beneficial if the large bowel is the primary site of the motility abnormality. Bowel transplantation can benefit selected patients.

324.2 Functional Constipation

Constipation is defined by a delay or difficulty in defecation present for 2 weeks or longer and significant to cause distress to the patient. Another approach to the definition is noted in Table 324-2. Functional constipation, also known as idiopathic constipation or fecal withholding, can usually be differentiated from constipation secondary to organic causes on the basis of a history and physical examination (Chapter 21.4). Unlike anorectal malformations and Hirschsprung disease, functional constipation typically starts after the neonatal period. Usually, there is an intentional or subconscious withholding of stool. An acute episode usually precedes the chronic course. The acute episode may be a dietary change from human milk to cow’s milk, secondary to the change in protein:carbohydrate ratio or an allergy to cow’s milk. The stool becomes firm, smaller, and difficult to pass, resulting in anal irritation and often an anal fissure. In toddlers, coercive or inappropriately early toilet training is a factor that can initiate a pattern of stool retention. In older children, retentive constipation can develop after entering a situation that makes stooling inconvenient such as school. Because the passage of bowel movements is painful, voluntary withholding of feces to avoid the painful stimulus develops.

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