Achalasia |
| Achalasia
in children is a rare primary motility disorder of the esophagus
characterized by the failure of the lower esophageal sphincter (LES) to
relax properly and the absence of normal peristalsis. The prevalence is
low, with an estimated incidence of 0.11 to 0.18 cases per 100,000
children per year, and it is slightly more common in males. Although
achalasia is more commonly diagnosed in adults, pediatric cases present
unique diagnostic and management challenges. The exact etiology of achalasia remains unknown, but the disorder is believed to result from the progressive degeneration of the inhibitory neurons in the esophageal myenteric plexus. This leads to an imbalance between excitatory and inhibitory neurotransmission, specifically a deficiency in nitric oxide-producing neurons that regulate LES relaxation. Some studies suggest an autoimmune mechanism involving CD3/CD8-positive cytotoxic T cells, eosinophils, and mast cells, which could contribute to the destruction of ganglion cells. Familial cases have been reported, and achalasia has been associated with genetic syndromes such as Allgrove syndrome and Down syndrome. Additionally, Chagas disease, caused by Trypanosoma cruzi infection, can lead to secondary achalasia through the destruction of enteric neurons, mimicking idiopathic achalasia. Children with achalasia often present with progressive dysphagia, initially to solids and later to liquids. Other symptoms include regurgitation of undigested food, nocturnal cough due to aspiration, chest pain, weight loss, and failure to thrive. Misdiagnosis is common, with many children being treated for gastroesophageal reflux disease or feeding disorders before the correct diagnosis is made. The delay in diagnosis often leads to significant esophageal dilation and the development of a sigmoid-shaped esophagus, also known as megaesophagus. The diagnosis of achalasia relies on a combination of clinical presentation, radiologic imaging, endoscopic evaluation, and esophageal motility studies. A barium esophagogram typically reveals a dilated esophagus with a classic "bird-beak" appearance at the LES. High-resolution manometry (HRM) remains the gold standard for diagnosis, demonstrating the absence of peristalsis and elevated LES pressure with incomplete relaxation. Upper endoscopy is performed to exclude other conditions, such as strictures or malignancies, although its findings in achalasia are often nonspecific. Newer diagnostic tools, such as EndoFLIP (endoscopic functional luminal imaging probe), have been introduced to measure esophagogastric junction distensibility, aiding in diagnosis and treatment evaluation. High-resolution manometry has also allowed for the classification of achalasia into three subtypes based on the Chicago Classification criteria. Type I achalasia is characterized by the complete absence of esophageal peristalsis. Type II achalasia presents with panesophageal pressurization in more than 20% of swallows, and these patients are more likely to experience significant weight loss. Type III achalasia is marked by peristaltic fragmented or spastic contractions and is often associated with chest pain. Histological findings reveal aganglionosis and neuronal loss in Type I and Type II achalasia, while Type III achalasia exhibits impaired inhibitory postganglionic neuron function but no neuronal loss. Some evidence suggests that untreated Type II achalasia may progress to Type I over time. Management of achalasia in children focuses on relieving symptoms by reducing LES pressure to improve esophageal emptying. Pharmacological treatments, including calcium channel blockers and nitrates, have been largely ineffective. Botulinum toxin injection into the LES can provide temporary relief but has limited long-term efficacy, making it a less favored option. Pneumatic balloon dilation (PBD) has been used in children, with success rates varying between 50% and 80%, but repeated dilations are often required, and the risk of esophageal perforation remains a concern. Heller myotomy, particularly the laparoscopic approach (LHM), is considered the standard surgical treatment for pediatric achalasia. This procedure involves cutting the muscle fibers of the LES to alleviate obstruction, often combined with an anti-reflux procedure such as Dor or Toupet fundoplication. LHM has demonstrated superior long-term outcomes compared to PBD, with lower recurrence rates and improved symptom control. A growing body of evidence supports the use of robotic-assisted Heller myotomy, which offers enhanced precision and dexterity, reducing intraoperative complications. Peroral endoscopic myotomy (POEM) has emerged as a minimally invasive alternative to LHM, showing promising results in pediatric patients. POEM involves creating a submucosal tunnel to perform myotomy endoscopically without external incisions. Studies indicate that POEM achieves similar success rates to LHM, with fewer complications and shorter hospital stays. However, concerns about long-term reflux complications remain, as POEM does not include a concurrent anti-reflux procedure. Comparative studies between PBD, LHM, and POEM have suggested that LHM provides the most durable symptom relief, whereas PBD is associated with higher recurrence rates requiring repeat interventions. A recent multicenter study comparing endoscopic dilation and myotomy in children confirmed that LHM had a significantly higher success rate with fewer retreatments. However, in select cases where surgical intervention is contraindicated, PBD or POEM may be viable alternatives. Advancements in diagnostic techniques and treatment modalities continue to improve the management of pediatric achalasia. The use of EndoFLIP during surgical and endoscopic procedures allows for real-time assessment of esophageal distensibility, potentially guiding the extent of myotomy. Additionally, high-resolution manometry enables better subclassification of achalasia into types I, II, and III, which may influence treatment selection. Ongoing randomized controlled trials aim to further clarify the optimal management strategies, particularly comparing POEM and LHM in children. Despite these advancements, the rarity of pediatric achalasia necessitates a multidisciplinary approach involving pediatric gastroenterologists, surgeons, and dietitians to ensure optimal outcomes. Early recognition and intervention are crucial in preventing disease progression and minimizing complications. Long-term follow-up is essential, as some children may require additional interventions for symptom recurrence or complications such as gastroesophageal reflux. Continued research and collaboration among specialized centers will further enhance the understanding and treatment of this challenging disorder. References: 1- Altokhais T, Mandora H, Al-Qahtani A, Al-Bassam A: Robot-assisted Heller's myotomy for achalasia in children. Comput Assist Surg (Abingdon). 21(1):127-131, 2016 2- Islam S: Achalasia. Semin Pediatr Surg. 26(2):116-120, 2017 3- Idrissa S, Oumarou A, Mahmoudi A, Elmadi A, Khattala K, Bouabdallah Y: Diagnosis and surgical management of children with oesophageal achalasia: A 10-year single-centre experience in Morocco. Afr J Paediatr Surg. 18(3):155-159, 2021 4- Nicolas A, Aumar M, Tran LC, Tiret A, Duclaux-Loras R, Bridoux-Henno L, Campeotto F, Fabre A, Breton A, Languepin J, Kyheng M, Viala J, Coopman S, Gottrand F: Comparison of Endoscopic Dilatation and Heller's Myotomy for Treating Esophageal Achalasia in Children: A Multicenter Study. J Pediatr. 251:134-139.e2, 2022 5- Rafeeqi T, Salimi-Jazi F, Cunningham A, Wall J: The utility of Endoscopic Functional Luminal Imaging (EndoFLIP) in the diagnosis and management of children with achalasia. J Pediatr Surg. 58(4):639-642, 2023 6- Srivastava A, Poddar U, Mathias A, Mandelia A, Sarma MS, Lal R, Yachha SK: Achalasia cardia sub-types in children: Does it affect the response to therapy? Indian J Gastroenterol. 42(4):534-541, 2023 7- Güler S, Aksoy B, Öztan MO, Appak YÇ, Kahveci Çelik S, Onbasi Karabag S, Köylüoglu G, Baran M: The Results of Pneumatic Balloon Dilatation Treatment in Children with Achalasia: A Single-Center Experience. Turk J Gastroenterol. 34(9):968-974, 2023 8- Mussies C, van Lennep M, van der Lee JH, Singendonk MJ, Benninga MA, Bastiaansen BA, Fockens P, Bredenoord AJ, van Wijk MP: Protocol for an international multicenter randomized controlled trial assessing treatment success and safety of peroral endoscopic myotomy vs endoscopic balloon dilation for the treatment of achalasia in children. PLoS One. 18(10):e0286880, 2023 |
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