Manometric progression of achalasia.

Abstract

Primary achalasia is a neurologic disorder of unknown origin that causes dysphagia. Classically, the diagnosis of achalasia is made by esophageal manometry, demonstrating an increase in resting esophageal sphincter pressure, incomplete or failure of relaxation of the lower esophageal sphincter with swallowing, and aperistalsis in the body of the esophagus during swallowing (1). Limited information is available regarding the manometric changes during the evolution of achalasia. In adults, there have been reports of diffuse esophageal spasm (2), nutcracker esophagus (3), or nonspecific motility disorders (4) progressing to achalasia. We describe a 10-year-old boy who had chest pain and exhibited dysphagia, mainly with solids, and regurgitation. The initial evaluation demonstrated nonspecific esophageal motility findings that progressed over 6 months to classic manometric evidence of achalasia. CASE REPORT The patient was a 10-year-old boy who had a 1-year history of intermittent vomiting and dysphagia with solids. Two months before the initial evaluation, daily regurgitation of undigested food (usually during or after a meal), increased burping, and retrosternal pain also developed. He described the sensation of having food stick at the midsternal level. He reported no history of caustic ingestion. There was no family history of achalasia. On physical examination the patient's height was 140 cm (65th percentile for gender and age), and his weight was 29.4 kg (40th percentile for gender and age). The physical examination and neurologic evaluation were unremarkable. Stool was negative for occult blood. A barium study demonstrated a dilated esophagus with narrowing of the lower esophagus, suggestive of achalasia. At esophagoscopy there was no stricture, the esophageal mucosa appeared normal, and the endoscope (9.5-mm diameter) passed easily into the stomach. Manometry (without sedation) was performed using a tube assembly perfused by an pneumocapillary infusion pump (Arndorfer, Greendale, WI, U.S.A.). Pressure changes were transmitted to external transducers (model P23XL physiological pressure transducer; Gould, Cleveland, OH, U.S.A.) and recorded on a multichannel recorder (model RS3800; Gould). Motility of the esophagus was studied with a four-lumen tube of 0.9-mm external diameter of each lumen with recording tips 5 cm apart. A minimum of 20 swallows was recorded during each study. Lower esophageal sphincter (LES) pressure was determined by station pull-through technique. Initial manometry demonstrated a mean LES pressure of 26 mmHg and complete relaxation of the LES with swallowing in the 10 swallows evaluated. However, only 11% of the swallows induced peristalsis. Normal mean lower esophageal wave pressure, with decreased mid and upper esophageal peristaltic amplitude was also demonstrated (Table 1). To ensure no possibility of artifact due to movement in LES relaxation, the procedure was repeated with an M3 manometry catheter (Andorfer, Greendale, WI, U.S.A.) with a 6-cm sleeve with tips 3 cm apart (tube assembly perfused by the pneumocapillary infusion pump) for accurate recording of sphincter pressure (Fig. 1). Complete relaxation to gastric baseline was demonstrated in all the swallows. Computed tomographic scan of the chest and upper abdomen performed after the first manometry did not demonstrate any mass or extrinsic compression of the esophagus.TABLE 1: Manometric findingsFIG. 1.: Initial manometry performed with a sleeve manometry catheter, demonstrating relaxation of the lower esophageal sphincter to baseline with swallowing and peristalsis with some of the swallows.Because the patient did not have classic findings of achalasia, initial dilatation of the LES was performed with the patient under general anesthesia, with increasing size of Maloney dilators (Medovation, Germantown, WI, U.S.A.) from 30 to 40 French until a small amount of blood was visualized on the dilators. Repeat endoscopy demonstrated a small tear in the lower esophageal sphincter, but no other complications were produced. The procedure resulted in dramatic improvement of symptoms and a 2.3-kg (7%) increase in weight during the next 4 months. Six months after the dilatation, symptoms of regurgitation of undigested food during meals and at night, weight loss (600 g), increased burping, choking, and chest pain unrelated to eating recurred. A second barium study demonstrated disorganized esophageal motility with multiple tertiary contractions and a beak-like appearance of the distal esophagus. After 20 minutes, only a trickle of barium had passed into the stomach, although the patient was in an upright position. Esophageal manometry (without sedation) performed with a four-lumen tube of 0.9-mm external diameter of each lumen with recording tips 5 cm apart (Andorfer) now demonstrated no peristalsis, and increased LES pressure with incomplete or absent relaxation in 71% of the swallows. The basal esophageal pressure was increased from the previous study (18 mmHg above gastric baseline), with decreased amplitude in the lower, mid, and upper esophagus (Table 1, Fig. 2). The findings were consistent with a diagnosis of achalasia. The patient underwent pneumatic dilatation with a 3.5-cm balloon (Rigiflex; Microvasive Boston Scientific, Watertown, MA, U.S.A.) dilator under fluoroscopy. Dramatic improvement of symptoms was noted within 2 weeks of the procedure. The patient reported one episode of emesis per week, with better tolerance of solid food and a 650-g weight gain in a 2-week period.FIG. 2.: Second esophageal manometry demonstrating increased lower esophageal sphincter pressure, with incomplete or absent relaxation with swallowing, and absence of esophageal peristalsis with swallowing.DISCUSSION The evaluation of nonneurogenic dysphagia includes the differentiation between obstructive dysphagia (noninflammatory stricture, peptic stricture, extrinsic compression), and motility-related dysphagia (achalasia, hypotensive lower esophageal sphincter, hypertensive lower esophageal sphincter, diffuse esophageal spasm, nutcracker esophagus, and nonspecific esophageal motility disorder) (5). Nonspecific esophageal motility disorders are reported in approximately 40% of adults evaluated for dysphagia (6,7). However, such disorders are rarely reported in children. Rosario et al. (8) reviewed the manometric tracings in 154 children referred for swallowing-related upper gastrointestinal symptoms. Thirty subjects with no evidence of gastroesophageal reflux (by 24-hour intraesophageal pH probe or endoscopy) had motility abnormalities detected by esophageal manometry. Of these, 12 had achalasia, 3 intestinal pseudo-obstruction, 1 diffuse esophageal spasm, and 1 dysmotility after tracheoesophageal fistula repair. In 13 subjects a diagnosis of nonspecific motility disorder was made. This diagnosis was based on the following manometric abnormalities: aperistaltic, repetitive, or multipeaked contractions; low-amplitude contractions; intermittent segmental contractions; prolonged contraction duration; incomplete relaxation of the LES; or any combination of these findings. The children with a nonspecific motility disorder had the following symptoms: vomiting (8/13), chest pain (6/13), dysphagia (6/13), midesophageal food impaction (4/13), and epigastric pain (3/13). Of note, symptoms improved in 6 of 13 patients, including 3 for whom no pharmacotherapy was prescribed (8). This report describes the clinical course and evaluation of a child with dysphagia. Initially, the patient had symptoms of dysphagia induced by consumption of solids and a barium study result that was suggestive of achalasia. However, the initial esophageal manometry demonstrated a nonspecific motility disorder (similar to the cases reported by Rosario et al. [8]), but not classic achalasia. The classic manometric findings of achalasia developed over a period of 6 months, which correlated with worsening of clinical symptoms. Similar progression from a nonspecific esophageal motility disorder to achalasia was reported by Vantrappen et al. (9) in a large series of adult patients. The authors evaluated 156 patients with primary esophageal motility disorders associated with severe dysphagia that required treatment with pneumatic dilatation. Before dilatation, 24% of the patients exhibited an esophageal motility disorder that did not fit into the definition of diffuse esophageal spasm or achalasia. Six (ages 23–70 years) of the 156 subjects had deterioration of the esophageal motility disorder. The initial disorder consisted primarily of nonsequential contractions with preservation of peristalsis and LES relaxation after some deglutitions. Three of the six patients initially exhibited or progressed to a stage defined as diffuse esophageal spasm. Over a period of 7 to 23 months, achalasia developed. Kramer et al. (2) first described the transition from symptomatic diffuse esophageal spasm to achalasia during an 8-year period in a 70-year-old man. Isolated case reports document progression from nonspecific motility disorders to achalasia. Meshkinpour et al. (10) described a 17-year-old girl with an 11-cm segment of aperistalsis in the esophagus. Three months later classic manometric manifestations of achalasia developed. Shiflett et al. (4) also reported a 55-year-old man with dysphagia, who demonstrated increased LES pressure with complete relaxation on swallowing and nonperistaltic contractions in 50% of the swallows examined by initial manometry. Two years later, another manometry demonstrated aperistalsis. Achalasia was diagnosed, and an esophagomyotomy was performed. This report confirms that achalasia is a progressive disease in children. O'Brien and Smart (11) evaluated four siblings with dysphagia, of whom one had achalasia, two had esophageal body motor dysfunction associated with a hypertensive, but normally relaxing, LES, and one had diffuse esophageal spasm alone. They suggested that these conditions are intimately related and probably are genetically determined as an autosomal recessive trait. Findings in the large series of patients evaluated by Vantrappen et al. (9) in association with this and other case reports, suggest that achalasia, diffuse esophageal spasm, and some nonspecific motility disorders, represent variants of a single entity. Therefore, esophageal dysmotility may be an early finding before the progression to LES dysfunction. Manometric evidence of a nonspecific motility disorder may be the initial manifestation of achalasia. A second manometry is necessary in patients with progression or no resolution of symptoms over time, because it may provide a more definite diagnosis.