What are the features of esophageal dysmotility in children?
J.A. Tovar, G. Prieto, M. Molina, J. Arana (Madrid)
Achalasia is a disorder of the upper gastrointestinal tract in which progression of the bolus through the lower esophagus is blocked by a functional obstruction at this level associated with a lack of peristaltic activity. This leads to esophageal dilation (megaesophagus) and to several symptoms including regurgitation, dysphagia, weight loss, etc. The etiology of achalasia is unclear, but the functional disturbances in adult patients are well known: lack or incompleteness of deglutitory relaxation of the lower esophageal sphincter (LES), absent or disorganized peristalsis and, frequently, increased pressure of the LES.
Some clinical features are different in children in whom achalasia is occasionally associated with other diseases and responds poorly to forceful dilation. Due to its rarity and to the obvious difficulties of manometry in children, only a few cases reported in the pediatric literature include data on sphincteric and esophageal body function in this condition and the question arises of whether motor disturbances observed in them are identical to those of adult patients. This study summarizes the experience in achalasia of two centers with particular interest on esophageal problems in children and reviews the stationary manometry data and some preliminary findings on ambulatory manometry.
Patients and methods
We reviewed the 17 patients treated at the Hospital Infantil "La Paz", Madrid, Spain
(n = 10) and at the Hospital Materno-Infantil NaSa de Aranzazu, San Sebastián, Spain
(n = 7) in the last 30 years (1966-1996).
Male-to-female ratio was 2.2 (11 male and 6 female), mean age at the onset of symptoms was 6.9 years (range 6 months to 15 years), and the diagnostic delay was relatively long (20.7 ± 23 months, mean ± SD). The symptoms leading to diagnosis are listed in Table I and were consistent with those observed in other reports. Only in one instance achalasia was diagnosed in a 9 year-old girl treated during 2 years for selective glucocorticoid deficiency and alacrimia ("triple A" or Allgrove's syndrome). Gastrointestinal symptoms in her were identical to those of other patients. Another child with Down's syndrome had symptoms since the age of 6 months. Barium meal revealed in all cases a bird beak distal thinning of a very dilated and aperistaltic esophagus and endoscopy ruled out any organic obstruction.
Standard pull-through manometry of the LES and stationary evaluation of esophageal body function were carried but in 13 patients according to previously reported techniques  using different equipments that evolved along the years. In all we measured the LES pressure, the presence and/or completeness of deglutitory relaxations and the presence and proportion of peristaltic contractions of the esophageal body. In the last 3 patients circadian esophageal body function was also evaluated by means of ambulatory 24-hour manometry according to techniques described in detail elsewhere . We analyzed data on the total number of motor sequences, the proportion of peristaltic waves and the proportion of those that were ineffective (low amplitude, non-progressive and/or incomplete).
Figure 1. Stationary recording in an 11-year-old-boy. Channels: 2, deglutition, 3, mid esophageal body, 4, LES, 5, stomach and 6, respiration. Only minimal sphincteric relaxation, with resting pressures above 10 mmHg, after deglutitions d(7), d(S) and d(9).
Figure 2. Rapid pull-through recording in a 13-year-old patient who had high-pressure LES (1) and in a 5-year-old boy who had normal LES pressure (2). None of them had deglutitory relaxations (E = sphincter).
Six patients were treated with forceful dilatations under anesthesia (11 sessions in all) although all but one had to undergo, aside with the remaining 10 children, transabdominal esophageal myotomy accompanied or followed (1 case) by an antireflux procedure in 12/16 (2 Nissen, 10 Thal) in order to prevent postoperative gastroesophageal reflux (GER).
Figure 3. Esophageal body tracings in a 3-year-old patient who had a clinical picture of dysphagia and regurgitation, a typical radiological picture of achalasia and a pattern of non-progressive vigorous con-tractions. Channel 3 = upper esophagus, channel 4 = mid esophagus and channel 5 = lower esophagus.
Figure 4. 6-h segment of the twenty four-hour ambulatory manometry tracing of patient from Figure 1. He had only 192 motor sequences in 24 hours and they were uniformly non propulsive. This part of the tracing shows the complete absence of motor sequences during the night. Upper tracing = upper esophagus, center tracing = middle esophagus and lower tracing = lower esophagus.
All patients but one (including the child with Allgrove's syndrome) had the same functional pattern at diagnosis consisting of lack or incompleteness of LES relaxation (Figure 1) and practical absence of peristaltic waves (in 9/12 there were no waves at all) in the esophageal body. LES pressure was above 35 mmHg in only 4/13, the highest one being 80 mmHg (Table II and Figure 2). In only one case we could appreciate a pattern consistent with that of vigorous achalasia in adults: achalasic sphincter and very strong (maximum amplitude of 102.8 mmHg) but non-progressive waves in the esophageal body (Figure 3). As far as the circadian function is concerned, a uniform dismotility pattern was documented in the three patients studied who had very scarce motor sequences in 24 hours and almost no peristaltic movements or no waves at all (Table III and Figure 4).
One patient responded dramatically to forceful balloon dilation (precisely the one with vigorous achalasia pattern) but all the remaining children had to be operated upon after several trials with inconsistent temporary relief. The results of surgery were uniformly satisfactory since immediate relief of dysphagia was obtained. However, most patients continued to suffer occasionaly from episodes of mild dysphagia in the long-term follow-up. pH-monitoring testing of the antireflux barrier showed that all 4 patients in whom an antireflux procedure had not been added to the myotomy, and the one cured by forceful dilation, have excessive acid exposure. In one, we had to perform a secondary Nissen fundoplication, and the remaining two, having only mild symptoms, are not willing to accept additional procedures.
Achalasia is rare in infancy and childhood and only relatively short series from individual institutions [3-19] and two collective reviews (one worldwide including 175 children  and the other limited to Switzerland with 16 cases ) have been reported. The clinical symptoms described suggest that, irrespective of the age of onset, the functional disturbances might be similar to those of adult patients. However, only some reports contain manometric data [6, 8, 10, 11, 13, 16-20, 22], very rarely detailed [10, 20], making difficult to assess to which extent the disorder is the same.
Our own data demonstrate that all patients studied manometrically (including the one with "triple A" association) showed the cornerstone sphincteric disturbance found in adults, i.e. an incomplete or absent relaxation during deglutition. Not all patients had increased sphincteric pressure at rest as it has been reported in adult clinical material, but the absolute value of this finding is questionable in view of the evolving equipment and techniques used for manometric studies along so many years. As far as the absence of peristaltic waves in the esophagus is concerned, our patients behaved also as adults by this respect since not a single one produced organized, progressive waves. The finding of a vigorous pattern in one case further illustrates that the motor disturbance is very probably the same in adults and children. The dramatic result of forceful balloon dilation of the cardia in this single patient (by the way, quite unique in the pediatric literature) does not authorize speculation on a particularly favorable response associated with this pattern but it is obviously intriguing.
In conclusion, according to our experience, the sphinteric and esophageal motor patterns observed in children with achalasia are identical to those well known in adults. Taking into account the usual long delays before diagnosis and the relatively late onset common in the pediatric form of the disease, it seems reasonable to admit that we are probably dealing with the same and identical disturbance.
Prof. A. Delgado, Dr. J. Albisu and Dr. P. Fernandez referred their patients to us for confirmation of diagnosis and treatment. Our nursing staff made the collection of functional data possible with outstanding skill and patience. We acknowledge their contribution and thank them all very warmly.
This work was supported in part by FIS 84/1049, 90/572 and 94/286 Grants.
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