Esophageal and Lower Esophageal Sphincter Motility Disorders (Smooth Muscle)
Pediatric motility disorders of the mouth, pharynx, and esophagus are exceedingly important because of the potential duration of disability if they are uncorrected and because of their interactions with developmental feeding, airway, and speech functions.
As with most aspects of pediatric disease, however, rigorous study of the pathophysiology, pharmacotherapy, and other aspects of management has lagged somewhat behind studies in adults. Although there are considerable limits to our current understanding of adult motility disorders, the limits are greater in children. Few rigorous trials adequately address the management options for these diseases in children, even more so than is true for many adult motility disorders. The patients are fragile and vulnerable, and often limited in number; they are less cooperative and require smaller and more variable-sized equipment because of their small and variable sizes. Nonetheless, a great deal is now understood about oropharyngoesophageal motor disorders in children. Much remains to be discovered about these disorders, as well.
Primary Esophageal Motor Disorders
Achalasia is the most common primary esophageal motility disorder in children.13 Recent reviews and descriptions of sizable pediatric series portray the range of this disease as it manifests in the child.In addition to appearing as isolated primary disease, it may present as part of various syndromes or in association with other diseases. Achalasia typically appears in older children with dysphagia as the predominant symptom; when it occurs in younger children, vomiting (regurgitation) is often the primary symptom. Diagnosis may be suspected on plain radiographs or barium studies, as indicated above. Manometric hallmarks include high-pressure and incompletely relaxing lower esophageal sphincter, esophageal peristaltic failure, and elevation of intraesophageal pressure. Typical peristaltic abnormalities include low-pressure simultaneous waves, but occasional patients with “vigorous achalasia” manifest high-pressure simultaneous waves early in the disease. The most definitive treatment for achalasia in children, as in adults, is myotomy; myotomy may be performed using minimally invasive techniques and should generally be accompanied by fundoplication to prevent complications of gastroesophageal reflux through the newly incompetent sphincter.Esophageal dilations provide long-term relief in about half of children; dilations can be performed via pneumatic or hydrostatic techniques, and with endoscopic and/or fluoroscopic guidance, including via through-the-scope balloons.For temporary relief, or in children who are not candidates for the more invasive procedures, nifedipine may be used. Intrasphincteric injections of botulinum toxin produce 3 to 6 months of relief of symptoms in nonsurgical candidates or in the occasional child with a failed myotomy.For comparisons of these modalities and consideration of cost-effectiveness, adult reviews must be consulted.Long-term effectiveness of myotomy is generally superior to either of the other treatments, and factors responsible for treatment failure and recurrence have been identified in adult series.The issue of esophageal cancer as one long-term complication of achalasia has particular relevance to pediatric patients, as their youth provides a longer potential exposure to carcinogenic influences. The other primary esophageal motor disorders include diffuse esophageal spasm (simultaneous waves), nutcracker esophagus [high-pressure prolonged-duration waves (>180 mmHg and > 6 seconds) with normal progression], and nonspecific esophageal motility disorder.33 Children with chest pain but without esophagitis or cardiac disease are diagnosed using manometry, and treatments have included nitrates and calcium channel blockers, but with variable success. The pediatric presentations and management have not been thoroughly reviewed recently; for management of these disorders, adult publications provide useful information.
Secondary Esophageal Motor Disorders
The most important secondary esophageal motor disorders in children—indeed, currently among the most commonly diagnosed pediatric gastrointestinal disorders overall—are due to two inflammatory conditions that were not well distinguished until recently: gastroesophageal reflux disease and eosinophilic esophagitis.
- Gastroesophageal reflux disease is the product of esophageal dysmotility: increased transient lower esophageal sphincter relaxations. In turn, it may promote motility disorders in the inflamed esophagus that further impair esophageal clearance and contribute to vicious cycles of worsening reflux. About one third of adults with reflux disease manifest esophageal dysmotility.The proportion of children who do so is unknown. Of 89 adults with reflux symptoms (65% with endoscopic esophagitis) who underwent testing with manometry and pH-metry, more than half had nonspecific esophageal motility disorder (nearly all “ineffective esophageal motility”–distal esophageal peristaltic pressures <30 mmHg or <70% of contractions transmitted64).221 Although the incidence of esophagitis was similar to that in the group with normal motility, pH-metry disclosed significantly prolonged acid clearance in those with ineffective esophageal motility. This may explain the symptom of dysphagia, present in 37% of 11,945 adults with erosive esophagitis, more frequent in those with worse esophagitis endoscopically.This dysphagia resolved in 83% after 4 weeks of proton pump inhibitor therapy; the 17% with persisting dysphagia had a significantly decreased rate of endoscopic healing (72% vs. 90%). In a study of 147 adults with gastroesophageal reflux disease (GERD), prolonged reflux symptoms, severe esophagitis, and Barrett’s esophagus were associated with dysphagia, decreased lower esophageal sphincter pressure, decreased amplitude of esophageal peristalsis throughout the esophagus, and delayed esophageal transit.Although other authors have disputed the association of ineffective esophageal motility with GERD,their analyses are likely faulty.A very recent study using 24-hour ambulatory motility during pH-metry in 24 children being investigated for GERD showed decreased and defective peristalsis during acid reflux even though prior routine manometry had been normal. In contrast to the low peristaltic pressures in ineffective esophageal motility that is frequently associated with chronic reflux esophagitis, high-amplitude peristaltic contractions (150 mmHg) and elevated lower esophageal sphincter pressure (45 mmHg) were found in a minority (<3%) of patients with reflux esophagitis submitted to fundoplication surgery. Further, in 100 adults with airway manifestations of reflux who underwent motility studies, 29% had normal motility and 48% had ineffective esophageal motility, but 10% had hypertensive lower esophageal sphincter, 9% had nutcracker esophagus, and 4% had achalasia.Thus, 73% had esophageal dysmotility, with high peristaltic or sphincter pressure in nearly a third of them. Others have also suggested a relationship between nutcracker esophagus and reflux disease.Indeed, a review of 402 motility studies for chest pain showed 10% with nutcracker esophagus, at least a third of whom had reflux esophagitis, 83% of those responding to antireflux therapy with improvement of symptoms, though only a minority normalized manometry findings. Similarly, the manometric findings of primary diffuse esophageal spasm overlap with those secondary to reflux disease. Pediatric studies of dysmotility in reflux disease are few. Among 79 children with chest pain (ages 7–16 years), 31 with mild-to-moderate esophagitis did not differ in manometry findings from 48 children without esophagitis; however, in 11 children with severe esophagitis, low-amplitude, broad-based, double-peaked, simultaneous waves were common, and normalized when the esophagitis was cleared. In nine children with reflux esophagitis, peristaltic and lower esophageal sphincter pressures were significantly reduced, and contraction durations increased, compared to nine controls and 15 with reflux but no esophagitis.In 60 children with reflux disease, LES pressure, and wave amplitude and propagation were decreased compared to controls.In two young infants, hypomotility, including aperistalsis and simultaneous low-amplitude waves, was associated with reflux esophagitis, but resolved with therapy. In three of 19 children presenting with chest pain, esophagitis, and normal unstimulated motility studies, esophageal acid perfusion induced significantly increased esophageal peristaltic amplitude and duration in conjunction with chest pain. Similar findings (increased wave pressure, duration, and velocity, and the occurrence of double-peaked and simultaneous waves) may occur during acid infusion in adults without erosive esophagitis. If reflux esophagitis and distal esophageal dysmotility are associated, which is primary? Do patients have primary motility disorders, allowing reflux that subsequently produces esophagitis, or does primary reflux induce esophagitis that in turn causes the dysmotility? Animal studies of acute experimental esophagitis have produced similar dysmotility, which resolved with recovery of the acute esophagitis, thus suggesting that the esophagitis caused the dysmotility. However, studies examining the relationship in humans, via aggressive therapy of reflux disease, have had difficulty showing similar improvements in dysmotility, with some reports asserting improvementsand others denying them. A pediatric study in 14 children undergoing fundoplication found failure of normalization of abnormal peristalsis several months after fundoplication. A later pediatric surgical study also found persistence of esophageal motor dysfunction after surgical cure of reflux. Investigators performed a large, prospective, randomized clinical and manometric study before and after fundoplication in 200 adult patients.Half of their study patients (though about a third of their referred patients) had ineffective esophageal motility: mean distal esophageal peristaltic pressures <40 mmHg and/or <40% of contractions transmitted, a fairly high threshold for this diagnosis. Of the patients with dysmotility, similar proportions worsened and improved their motility months following fundoplication (regardless of the type of fundoplication to which they had been randomized). Interestingly, a considerable minority of the patients with normal preoperative peristalsis developed decreased peristaltic transmission following surgery. The failure of such well-done human studies to show improvement in dysmotility after therapy for chronic reflux may be attributable to the induction of permanent changes in motility by fibrosing esophageal damage in chronic reflux disease. Once present, esophageal dysmotility, particularly that which impairs clearance, can clearly participate in worsening reflux esophagitis. The literature thus suggests that acute acid exposure of the esophagus, perhaps primed by (nonerosive) esophagitis, may induce hypercontractile dysmotility and chest pain. It also suggests that chronic acid exposure with more severe esophagitis may induce hypocontractile dysmotility that predisposes to vicious cycles of further acid damage to the esophagus. It suggests, though does not prove, that early in the course of the induction of hypomotility, the damage may be reversible, but that in more severe or prolonged cases it is not reversible. Diagnosis and treatment of pediatric gastroesophageal reflux disease are beyond the scope of this chapter, but are detailed elsewhere. Prokinetic agents have found a larger role in young children than in adolescents and adults, in whom acid suppression plays the primary role, but currently there is little rigorous evidence for marked utility of any of the available prokinetic agents. Reflux esophagitis may also produce nondysmotility dysphagia via the induction of fibrosing strictures, important to consider in the differential diagnosis. In addition, fundoplication therapy for GERD may itself produce dysphagia, particularly in the immediate postoperative period, related to obstruction by the wrap.
- Eosinophilic esophagitis is the other important secondary esophageal motility disorder in children, although the details by which it causes esophageal dysfunction remain unclear. This disorder affects young males disproportionately, and a considerable fraction of the patients have demonstrable food allergies.Severe eosinophilic esophagitis may cause esophageal obstruction via actual stricture formation, and some patients manifest a Schatzki ring, or thickened esophageal wall mildly narrowing the lumen diffusely.Frequently, however, no mechanical obstruction is evident, but patients often present with dysphagia or impactions out of proportion to endoscopically visible abnormalities.Manometric studies, infrequently performed, have not clarified the motor abnormalities that provoke the dysphagia and impactions.252 A possible explanation for the normal manometry studies despite prominent dysphagia and impactions is that they have generally not been done during food provocation. Supporting this concept, an adolescent boy who had chest pain occurring within a few minutes of eating green peppers or onions displayed a normal unprovoked manometry, but high-pressure spasmodic contractions occurred immediately following provocation with the offending food.This young man unfortunately did not undergo endoscopy, so that the suspicion that his chest pain was due to eosinophilic esophagitis goes unanswered. Seven adults whose subepithelial esophageal tissue was able to be examined between 1 and 12 years after diagnosis of eosinophilic esophagitis had developed impressive fibrosis of the esophageal lamina propria. Hypothetically, in parallel to reflux esophagitis, temporary esophageal motility abnormalities may be produced by acute exposure to the aggravating stimulus, whereas chronic exposure may induce permanent changes mediated by fibrosis. Diagnosis and treatment of eosinophilic esophagitis are also beyond the scope of this chapter, but it should be considered in young (especially male) individuals with reflux-like symptoms, particularly chest pain and obstructive symptoms, and especially in those with a family or personal history of atopy
- Other esophageal inflammatory or infiltrative conditions may affect motility in children and therefore may produce dysphagia independently or worsen dysphagia associated with gastroesophageal reflux. In addition to acid reflux and eosinophilic inflammation, such causes of esophageal inflammatory dysmotility are caustic ingestions, chronic indwelling nasogastric tubes, chemotherapy or radiation therapy, graft versus host disease, sclerotherapy, Crohn’s disease, chronic granulomatous disease, and cystinosis.Infectious causes of esophageal dysmotility include Chagas’ disease.
- Connective tissue diseases including scleroderma, mixed connective tissue disease, and systemic lupus erythematosus may induce hypotonic LES pressure and abnormal peristalsis in the smooth muscle esophagus. In addition to effects on the oropharynx and upper esophagus, polymyositis has been reported to cause decreased amplitude peristalsis in the smooth muscle esophagus. A scleroderma-like esophageal dysfunction producing distal esophageal hypoperistalsis and LES hypotonia was reported in six of eight children breast-fed by mothers with silicone breast implants. The abnormalities did not occur in bottle-fed infants from mothers with implants, nor in a control group.
- Endocrine disorders including diabetes and hypothyroidism may cause esophageal dysmotility.
- Esophageal dysmotility may accompany the diffuse gastrointestinal dysmotility of idiopathic chronic intestinal pseudo obstruction.
- Esophageal atresia, with or without tracheoesophageal fistula, is a relatively common congenital esophageal malformation that includes intrinsic dysmotility in the distal esophageal segment; this dysmotility participates in worsening cycles of reflux disease, and may be exacerbated by anastomotic strictures.272, 273, 274, 275, 276, 277, 278, 279, 280 Clinicians must manage dysphagia and reflux aggressively to prevent the recurrent aspiration that may otherwise complicate the airway disease that these children suffer because of their primary airway malformations.
- Hirschsprung disease generally affects the distal bowel, but esophageal dysmotility may accompany the intestinal dysmotility in some children.
- Pierre Robin syndrome, retrognathia with glossoptosis and cleft palate, produced esophageal manometric abnormalities in 50% of children examined. Of 35 unselected children with Pierre Robin syndrome (isolated, 27, or associated with Stickler syndrome, eight), all had feeding disorders and 86% had required nasogastric tube feeding for a mean duration of 8.6 months. The manometric abnormalities included LES hypertonia, failure of LES relaxation at deglutition, and esophageal dyskinesia. The clinical and manometric disorders tended to regress spontaneously after 12 months
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