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Year : 2023  |  Volume : 28  |  Issue : 5  |  Page : 369-374

Evaluation and management of achalasia cardia in children: A retrospective observational study

Department of Pediatric Surgery, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Submission08-Dec-2022
Date of Decision24-Jan-2023
Date of Acceptance06-Mar-2023
Date of Web Publication25-Apr-2023

Correspondence Address:
Veerabhadra Radhakrishna
Department of Pediatric Surgery, Bangalore Medical College and Research Institute, Bengaluru, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaps.jiaps_175_22

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Background: Achalasia cardia is a neuromuscular disorder of unknown etiology characterized by aperistalsis of the body of the esophagus and failure of relaxation of the lower esophageal sphincter. The diagnosis of achalasia cardia is delayed due to the rarity and the ability to mimic other common conditions in children. Hence, a study was conducted to evaluate the clinical presentation and the management of achalasia cardia in children.
Materials and Methods: A retrospective observational study was conducted in the department of pediatric surgery at a tertiary center. The children with achalasia cardia who presented between January 2014 and December 2021 were included.
Results: A total of 12 patients were treated for achalasia cardia during the study period. All children presented with recurrent episodes of vomiting, whereas dysphagia was seen in six (50%) children. Eighty-three percent of the children presented with a history of weight loss, whereas failure to thrive was seen in nine (75%) children. Five (42%) children were managed as gastroesophageal reflux disease (GERD) for more than a year before presenting to us. Three (25%) children underwent open cardiomyotomy with Thal fundoplication and the rest nine (75%) underwent laparoscopic cardiomyotomy. All are thriving well.
Conclusion: Achalasia is an important differential diagnosis in children with suspected GERD. The most common symptom of achalasia cardia is vomiting followed by dysphagia. Weight loss and failure to thrive are important presenting features in children with achalasia which are uncommon in adults. Cardiomyotomy without fundoplication is safe and effective to treat achalasia cardia in children without having any extra complications.

Keywords: Achalasia cardia, cardiomyotomy, fundoplication, gastroesophageal reflux disease

How to cite this article:
Kumar N, Gadgade BD, Shivapur AA, Radhakrishna V, Vasudev RB. Evaluation and management of achalasia cardia in children: A retrospective observational study. J Indian Assoc Pediatr Surg 2023;28:369-74

How to cite this URL:
Kumar N, Gadgade BD, Shivapur AA, Radhakrishna V, Vasudev RB. Evaluation and management of achalasia cardia in children: A retrospective observational study. J Indian Assoc Pediatr Surg [serial online] 2023 [cited 2023 Dec 4];28:369-74. Available from: https://www.jiaps.com/text.asp?2023/28/5/369/374697

   Introduction Top

Achalasia is a rare neurodegenerative disorder seen in the adult population. The disease is even more infrequent in children. The incidence of achalasia in childhood is 0.11 per one lakh children annually.[1],[2] Achalasia cardia is characterized by the degeneration of the inhibitory myenteric plexus that innervates the lower esophageal sphincter (LES) and esophageal body.[3] This leads to an imbalance in the inhibitory and excitatory neurons resulting in the failure of the LES to relax with swallowing, the absence of peristalsis of the esophageal body, and increased LES resting pressures.[4] Children usually present with progressive dysphagia, vomiting, and weight loss. Younger children and infants may also present atypically with recurrent pneumonia, nocturnal cough, aspiration, hoarseness, and feeding difficulties.[5],[6]

Achalasia in children is often misdiagnosed as gastroesophageal reflux disease (GERD).[2] Up to 50% of children are treated with antacids or prokinetics before the diagnosis of achalasia is identified.[7] Achalasia cardia was also mismanaged as anorexia nervosa and asthma.[3] Hence, it is essential to understand the various manifestation of achalasia cardia in children which would help us diagnose the disease early and treat it to reduce morbidity. Hence, a study was conducted to evaluate the presentation and management of achalasia cardia in children. The primary objective was to identify the various presentations of pediatric achalasia and the secondary objective was to evaluate the outcome of cardiomyotomy in children.

   Materials and Methods Top

A retrospective study was conducted in the department of pediatric surgery in a tertiary care center. Ethical approval was obtained by the institute ethical committee (PS: 147/2021-22). Informed consent was obtained from the parents of the children. The children with diagnosed achalasia cardia managed in the Department from January 2014 to December 2021 were included. The data were collected using patient case sheets and telephonic questionnaires. Children with incomplete data and the children who were lost to follow-up were excluded from the study. The demographic data, symptoms, duration of symptoms, clinical findings, investigations, surgical procedure details, and complications were recorded. The children were considered to have “failure-to-thrive” if their weight at presentation was <3rd centile on the WHO 2006 charts for <5 years of age or Indian academy of pediatrics (IAP) charts for age more than 5 years.[8],[9] Features of Allgrove syndrome, if any, such as alacrima and adrenal insufficiency were noted.

Achalasia cardia was diagnosed by the presence of dilated esophagus with a narrow LES in the upper gastrointestinal (GI) contrast study [Figure 1].[1] All cases of diagnosed achalasia cardia underwent either open or laparoscopic cardiomyotomy. The children who were operated on before 2017 also underwent an additional Thal fundoplication along with the cardiomyotomy. The fundoplication was deferred after 2017.[10],[11]
Figure 1: Esophageal swallow showing dilated esophagus with narrowed gastroesophageal junction

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Open cardiomyotomy

A standard Heller's cardiomyotomy was performed.[12] A large-bore Ryle's tube was placed as a nasogastric tube before starting the procedure. An upper midline laparotomy was performed. The left lobe of the liver was retracted superiorly. The anterior vagus was identified and safeguarded. The tissue between the esophagus and crura was divided. A gentle, blunt dissection was carried out in the posterior mediastinum to free the esophagus taking care to prevent injury to the pleura. The posterior vagus was identified and safeguarded. A myotomy was performed from 5 cm cranial to 1 cm caudal to the gastroesophageal junction to the left of the anterior vagus. The muscular edges were undermined for up to 50% of the esophageal circumference. The esophagus was insufflated to check for perforation. The hiatus was narrowed by suturing the crura to the esophagus. The anterior fundus was draped over the myotomy to complete the Thal fundoplication.

Laparoscopic cardiomyotomy

The laparoscopic access to the esophagus was obtained by placing four trocars using 5 mm ports at the umbilicus, epigastrium, and bilateral hypochondriac regions. The rest of the steps were similar to the open procedure. No fundoplication was performed.

The oral feeds were initiated on 1st postoperative day following the laparoscopic procedure and 2nd postoperative day following the open procedure after removing the nasogastric tube. The children would be discharged after achieving the full oral feeds, i.e., on the 3rd and 4th postoperative days, respectively, following laparoscopic and open procedures. The children were followed up at 2 weeks, 6 weeks, 3 months, 6 months, and then yearly. The children with persisting symptoms or new symptoms were evaluated by upper GI contrast study and/or upper GI endoscopy. For a suspected incomplete myotomy based on clinical and radiological findings, up to three sittings of esophageal dilatations were carried out and the children who did not respond to this protocol were planned for redo-cardiomyotomy.

Statistical analysis

The number and percentage were used to express the descriptive parameters, whereas the mean ± standard deviation or median (range) was used to express the continuous parameters.

   Results Top

A total of 12 patients were treated for achalasia cardia during the study period. There were three boys and nine girls. The mean age at presentation was 9 ± 5.6 years. The youngest child was a 13-month girl and the oldest was 15 years. The duration of symptoms varied from 2 months to 11 years with a median of 1.25 years.

All the children presented with recurrent episodes of vomiting. Dysphagia for solids was seen in six (50%) children and all of them were tolerating the liquid diet. Ten (83%) children presented with a history of weight loss while failure to thrive (weight-for-age <3rd centile) was seen in nine (75%) children. Five (42%) children were managed as GERD for more than a year before presenting to us. None of the children had respiratory symptoms. None of the children had a syndromic association.

Three (25%) children underwent open cardiomyotomy with Thal fundoplication and the rest nine (75%) underwent laparoscopic cardiomyotomy. One child each in open and laparoscopic groups had persistent symptoms postprocedure. Upper GI contrast in both children revealed dilated and ectatic lower esophagus, but the contrast was emptying promptly into the stomach. Both became symptom-free after three dilatations, possibly incomplete myotomy which responded to Savary-Gilliard dilatation. Other children did not undergo contrast study as they were asymptomatic. A child in the laparoscopy group had a food bolus impaction 3 months postprocedure (1 year and 9 months of age) which was managed by endoscopy, disimpaction of the bolus, and esophageal calibration. None of the children had esophageal perforation or stricture. All are asymptomatic and thriving well. The follow-up ranged from 1 year to 8 years with a mean follow-up of 4 years.

   Discussion Top

Achalasia cardia is a rare neuromuscular disorder involving the esophagus characterized by the absence of peristalsis, failure of receptive relaxation of the LES, and high resting pressure of LES.[1] Only 5% of these cases occur in children, and hence, the diagnosis and management in children are extrapolated from adult experience.[1] As a result, many children miss an early diagnosis and are managed as other conditions.[2],[3] Hence, a study was conducted to understand the various manifestation of achalasia cardia in children which would help us diagnose the disease early and treat it to reduce morbidity.

Achalasia cardia has no age predilection occurring from infancy to the ninth decade but the incidence increases with age and the mean age in most studies is above 50 years.[13] The mean age at surgery in our study was consistent with other pediatric studies such as Erginel et al., Lee et al., Hallal et al., Corda et al., Karnak et al., Singh et al., Smits et al., Zagory et al., and Saliakellis et al. as they reported mean age at surgery of 3.34 years, 13 ± 6 years, 11 years, 12 years, 8.3 years, 3.25 ± 0.4 years, 11.4 ± 3.4 years, 11.6 ± 5 years, and 10 years, respectively.[2],[7],[14],[15],[16],[17],[18],[19],[20] There was no gender predilection in adult studies while the pediatric studies showed a male preponderance.[2],[3],[7],[14],[15],[16],[17],[18],[19],[20] However, our study showed a female preponderance (9:3).

The diagnosis is usually delayed until 6 to 10 years of age as they are misdiagnosed in many cases.[1],[14] The symptom duration in other pediatric studies varied from 7 months to 14 years which was similar to our study.[2],[7],[14],[15],[16],[17],[18],[19],[20] A multicenter study by Smits et al. which included 87 Pediatric achalasia cases found that achalasia was misdiagnosed in 15% of cases and these children were treated as eosinophilic esophagitis (5%), GERD (3%), asthma (2%), esophageal stricture (1%), cystic fibrosis (1%), psychiatric illness (1%), and anorexia nervosa (1%).[18] Hallal et al. found that 46% of their study population was treated as GERD, 46% as asthma, and 8% as anorexia nervosa before presenting to them.[14] Lee et al. reported that 46% of their study population was treated as GERD before the presentation.[7] In our study, 42% of the children were managed as GERD for more than a year before presenting to us. This is because the regurgitation of feeds and failure to thrive are seen in both GERD as well as achalasia cardia.[6] The rarity of the disease, atypical symptoms at young age, symptoms similar to other commoner diseases, and absent radiological findings in the early stages of achalasia cardia lead to misdiagnosis and inappropriate management of achalasia.[6],[18] Hence, achalasia cardia should be considered as a differential diagnosis in case of GERD, asthma, recurrent pneumonia, and anorexia nervosa.[14],[18]

The study by Erginel et al. found that vomiting was the most common presentation seen in 68% of patients followed by dysphagia (36%).[2] The other pediatric studies such as Hallal et al., Karnak et al., and Singh et al. also reported similar findings.[14],[16],[17] Vomiting was a presenting symptom in 100% of our study population and dysphagia was seen in 50% of cases. This is unlike the adult studies where dysphagia was the most common symptom followed by regurgitation of feeds and chest pain.[3],[21],[22],[23],[24] Our study found that weight loss was present in 83% of the children, whereas the failure to thrive was seen in 75% of cases. Other Pediatric studies have reported weight loss ranging from 40% to 87% and failure to thrive in up to 80% of cases.[7],[13],[16],[19] In adults, weight loss is found in the late stages of the disease.[22] An adult systematic review by Pandolfino and Kahrilas found that weight loss was seen in only 10% of the population with achalasia cardia.[23] This is because the adults learn to adapt to the condition and manage their nutrition by becoming “slow eaters.”[22] The other symptoms of achalasia cardia found in children are an aversion to feeding, prolonged feeding time, cough, nocturnal cough, noisy breathing, choking, and recurrent lung infections.[1],[6],[7],[14],[15],[16],[17],[18],[19],[20]

Achalasia cardia occurs due to an imbalance between the excitatory and inhibitory neurotransmitters in the distal esophagus secondary to the degeneration of ganglion cells.[1],[3],[4] As a result unopposed substance P and acetylcholine action lead to nonrelaxing of the LES with swallowing, absence of peristalsis of the esophageal body, and increased LES resting pressures.[4] Nitric-oxide-releasing neurons have been found deficient in cases with achalasia.[1] The etiology of achalasia is unknown but its association with Allgrove syndrome, Down's syndrome, congenital hypoventilation, and glucocorticoid insufficiency suggest a genetic etiology.[1],[14] Achalasia can also occur as an acquired condition in patients with Chaga's disease.[1],[14] We had no patients with syndromic association while other pediatric studies reported 0%–23% prevalence of syndromic achalasia cardia.[2],[7],[10],[14],[17],[19]

Esophageal manometry is the gold standard investigation to diagnose achalasia.[1],[17] The findings in manometry include aperistalsis during wet swallows, an abnormal relaxation of LES, increased LES basal pressure, and increased gastroesophageal pressure gradient.[6] The manometry can also be used intraoperatively to guide the length and completeness of myotomy, to assess the response to therapy, and to evaluate in case of recurrent symptoms.[1],[25] However, manometry may not be available in all the centers. A chest X-ray may show a dilated esophagus with an air-fluid level.[1] The esophageal swallow will show a dilated esophagus with smooth tapering in a “bird beak” fashion to the LES.[1] Esophagogastroscopy may reveal dilated and/or tortuous esophagus, fluid pooling in the esophagus, and a resistant gastroesophageal junction.[24]

Achalasia cardia does not have an actual cure; hence, the treatment aims to help the patient swallow by improving esophageal emptying. There are no mechanisms to induce peristalsis of the esophageal body; hence, the only way to improve esophageal emptying is to reduce the LES pressure.[1] This can be achieved by pharmacotherapy, pneumatic dilatation, and surgical myotomy. Calcium channel blockers like nifedipine were used to reduce the LES pressure in adults.[24] Maksimak et al. used nifedipine in four adolescents and found a 50% decrease in the LES pressure.[26] A study by Bortolotti et al. used Sildenafil in adults with achalasia and found a decrease in LES tone and basal pressure.[27] The pharmacological treatment is either used in patients unfit for other interventions or used as a bridge to definitive therapy as the effects of pharmacotherapy are limited.[1] Botulinum toxin injection was attempted in adults which showed an initial success but a longer follow-up revealed relapse requiring re-treatment.[24] Several studies have documented the efficacy of pneumatic dilatation in children.[28] The pneumatic dilatation stretches and tears the circular muscle fibers leading to a reduction in resting LES pressure.[1],[13] However, the relapse rate and need for re-treatment following pneumatic dilatation were found to be higher in several studies.[18],[19],[20]

Surgical myotomy is the most effective and procedure of choice for achalasia cardia.[2] The laparoscopic approach has gained popularity compared to an open procedure as it is associated with early postoperative recovery and reduced hospital stay.[1] The use of an anti-reflux procedure is debatable.[1],[10] The studies by Salvador et al., Kummerow Broman et al., and Pacilli and Davenport found that the true incidence of gastroesophageal reflux (GER) following cardiomyotomy was minimal and can be managed by anti-reflux measures.[10],[11],[29] Corda et al. and Karnak et al. found that none of their study group developed GER following cardiomyotomy without fundoplication.[15],[16] However, it may be essential to conduct a meta-analysis on the incidence of GER following cardiomyotomy with or without fundoplication. The laparoscopic cardiomyotomy is also not without complications. The incidence of perforation varied from 0% to 31% and the incidence increased in case of re-treatment.[2],[7],[15],[16],[17],[18],[19],[20] Mediastinitis can be dangerous following myotomy which may end up in mortality.[17] Every attempt should be made to identify the perforation during the procedure. Moreover, in all these perforations, a primary repair of the perforation should be carried out followed by Dor fundoplication to cover the repair.[1],[15],[16],[17],[18],[19],[20]

Incomplete myotomy following laparoscopic cardiomyotomy was seen in 0%–6%.[15],[16],[17],[18],[19],[20] Recurrence of symptoms following laparoscopic cardiomyotomy was found in 0%–33% of cases.[15],[16],[17],[19] Most of these were due to incomplete myotomy and a few were due to adhesions at the myotomy site.[15],[16],[17],[18],[19],[20] Two (22%) of our patients had a recurrence of symptoms, possibly due to incomplete myotomy, managed by dilatations. Conversion to laparotomy was found in 20% of cases.[15] Karnak et al. reported a 5% incidence of transection of the vagus nerve.[16] None of our patients had perforation or stricture. All are thriving well.

Peroral endoscopic myotomy (POEM) is an innovation to treat achalasia. Nabi et al. performed POEM in 15 children with achalasia and found that all the children had complete resolutions of symptoms at 1-year postprocedure.[30] Caldaro et al. compared POEM with laparoscopy cardiomyotomy and found that both were equally effective to treat children with achalasia.[31]

The study highlights the diagnosis of achalasia based on clinical, radiological, and endoscopic findings, unlike other studies which stressed on esophageal manometry. Furthermore, the effectiveness of performing cardiomyotomy without a fundoplication and not having any extra complications is highlighted in our study. A smaller number of patients and a retrospective study design, are the limitations of the study. Achalasia being extremely rare in children requires a multicenter study.

   Conclusion Top

Achalasia is an important differential diagnosis in children with suspected GERD. The most common symptom of achalasia cardia is vomiting followed by dysphagia, unlike in adults. Weight loss and failure to thrive are important presenting features in children with achalasia which are uncommon in adults. Cardiomyotomy without fundoplication is safe and effective to treat achalasia cardia in children without having any extra complications.

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Conflicts of interest

There are no conflicts of interest.

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