Achalasia esophagus in children: causes, symptoms, diagnosis, treatment

Esophageal achalasia (cardiospasm) is a primary disorder of the motor function of the esophagus, characterized by an increase in the tone of the lower esophageal sphincter (LES), which leads to a violation of its relaxation and a decrease in esophageal peristalsis.

ICD-10 code

K.22.0. Achalasia of the esophagus.

Epidemiology of esophageal achalasia

The prevalence of achalasia is on average 1 in 10,000, but only 5% of the disease manifests itself before the age of 15 years.

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What causes achalasia of the esophagus in children?

Genetic, neurogenic, hormonal and infectious causes are assumed to play a role in the pathogenesis of achalasia. Cases of achalasia in siblings, including monozygotic twins, indicate the possible involvement of genetic factors. However, population studies have not confirmed the vertical familial transmission route. Herpes zoster may be involved in the development of achalasiaand autoimmune mechanisms. In South America, achalasia is considered one of the symptoms of Chagas disease, caused by Trypanosoma cruzi. In most cases, the etiology of achalasia cannot be determined.

Read also: Causes of achalisia of the cardia

Motor impairment in achalasia is associated with dysfunction of postganglionic inhibitory neurons that provide relaxation of the LES by releasing vasoactive intestinal polypeptide (VIP) and nitric oxide. As achalasia progresses, degeneration and a sharp decrease in the number of ganglia of the intermuscular plexus in the distal segment of the esophagus occurs. In some cases, inflammatory infiltration of the intermuscular plexus and pronounced perineural fibrosis, accompanied by degenerative changes in the smooth muscles of the esophagus and interstitial cells of Cajal-Retzius, have been described. Impaired motor function in achalasia has been noted not only in the esophagus, but also in the stomach, intestine, and gallbladder.

Symptoms of achalasia of the esophagus in children

Achalasia of the esophagus in children occurs much less frequently than in adults, and can occur at any age, most often after 5 years. The first symptoms do not attract the doctor's attention, and the diagnosis is established late. In 2000, S. Nurko published data from a meta-analysis of clinical symptoms of achalasia in 475 children: the most common symptoms are vomiting during or immediately after eating (80%) and dysphagia (76%).

Read also: Symptoms of achalasia cardia

At an early age, vomiting of uncurdled milk without admixtures of gastric contents occurs during feeding; the child "chokes" because peristalsis of the lower esophagus is not accompanied by opening of the cardia. After eating or during sleep, regurgitation, night cough, and progressive dysphagia are possible. Patients feel how food passes through the esophagus, complain of pain behind the sternum, night regurgitation, frequent bronchitis, and pneumonia. Chronic malnutrition can lead to delays in physical development and progression of anemia.

Diagnosis of achalasia of the esophagus in children

On the plain radiograph of the chest and abdominal cavity, the expansion of the mediastinum and a horizontal level of fluid with air in the esophagus are noticeable. There is no gas bubble in the stomach.

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During a radiocontrast study, the barium suspension is retained above the narrowed cardia, creating a picture of an "inverted candle flame", "radish tail", then the barium enters the stomach. The esophagus can be significantly expanded, sometimes acquiring an S-shape.

Endoscopy is necessary to exclude a tumor and other organic causes of stenosis. In achalasia, the esophagus is dilated, food or turbid fluid remains are visible above the narrowed cardia, but with light pressure from the endoscope it is always possible to pass the device into the stomach.

Manometry allows for a more accurate assessment of the nature of motor disorders of the esophagus and the tone of the lower esophageal sphincter. Achalasia is characterized by:

• an increase in the tone of the lower esophageal sphincter by approximately two times (normally 25-30 mm Hg), sometimes the pressure does not exceed the upper limit of the norm;
• absence of peristalsis of the esophagus along its entire length, sometimes only low-amplitude contractions remain;
• incomplete relaxation of the lower esophageal sphincter (normally relaxation is 100%, with achalasia it does not exceed 30%);
• the pressure in the esophagus is higher than the pressure in the fundus of the stomach by an average of 6-8 mm Hg.

Radioisotope scintigraphy with Tc allows to evaluate the features of the passage of solid or liquid food with an isotope label through the esophagus. The study can be useful in the differential diagnosis of achalasia and secondary disorders of esophageal peristalsis (for example, in scleroderma).

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Differential picture of achalasia of the cardia

Achalasia should be distinguished from diseases accompanied by esophageal obstruction (congenital esophageal stenosis, cysts or tumors of the mediastinum, vascular malformations, esophageal stenosis due to severe gastroesophageal reflux disease and Barrett's esophagus).

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Treatment of achalasia of the esophageal cardia in children

Conservative treatment of achalasia cardia

Since the etiology of achalasia is unknown, treatment of the disease is aimed at eliminating symptoms and reducing the functional obstruction of the lower esophageal sphincter. Currently, only nitrates and calcium channel blockers are considered to have a proven clinical effect.

Nitrates relax smooth muscles, including the lower esophageal sphincter. Isosorbide dinitrate (nitrosorbide) at a dose of 5-10 mg per day has the greatest clinical effectiveness. Esophagomanometry data showed that the drug reduces the tone of the lower esophageal sphincter by 30-65%, resulting in relief in 53-87% of patients. However, with long-term use, the effectiveness of treatment decreases, and side effects occur (most often headache).

Read also: Treatment of achalasia cardia

Calcium channel blockers impair the activation of smooth muscle contractions. In clinical studies, nifedipine at a dose of 10-20 mg per day reduces the tone of the lower esophageal sphincter in patients with achalasia, accelerating transit through the esophagus. With long-term treatment (6-18 months), the drug effectively eliminates the symptoms of the disease in 2/3 of patients, mainly with a mild form of the disease. Side effects in the form of varicose veins, fever and general hypotension were rare and were expressed only at the beginning of the course of treatment. Studies in children have not been conducted, and therefore the advisability of long-term (multi-year) drug therapy seems controversial.

A number of studies have shown that injections of botulinum toxin into the lower esophageal sphincter reduce its tone. However, dynamic observation showed that repeated injections of the drug are necessary to maintain the effect, and the response to treatment weakens over time. These results do not allow botulinum toxin injections to be considered as a method of choice in children.

Pneumatic balloon cardiodilation is one of the most effective methods of treating achalasia; experience of use in children confirms the effectiveness of the method in approximately 60% of cases. Given its relative simplicity and effectiveness, the method has found wide application in adults and children as the main method of treating achalasia.

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Surgical treatment of achalasia cardia

Myotomy is indicated when conservative therapy is ineffective. A promising treatment method is laparoscopic myotomy, an alternative to pneumatic balloon cardiodilator.