Peroral endoscopic myotomy in a 4-year-old patient

Summary

Summary: Peroral endoscopic myotomy (POEM) is a legitimate method for treating esophageal achalasia. It has been used in the Czech Republic since 2012. In the adult patient population, use of this method is already quite widespread. In pediatrics, however, our experience with the procedure is still limited. In this case report, we present on the case of what is, according to our best knowledge, the youngest Czech child with esophageal achalasia who, at just under 4 years of age, successfully underwent POEM. Prior to treatment, the child was often sick and failing to thrive, suffering from chronic cough and recurrent vomiting. Thanks to this minimally invasive method, the child can now fully develop her growth potential without the limiting symptoms of esophageal achalasia. Due to the patient’s age, it was not possible to perform standard high-resolution esophageal manometry. The diagnosis was finally confirmed by innovative endoluminal impedance planimetry, called functional luminal imaging probe (FLIP) topography, which we performed perioperatively. Our patient’s case confirms that POEM can be considered an alternative equivalent to laparoscopic or classical myotomy in pediatrics. In the hands of an experienced endoscopist, it is a safe and effective procedure.

Keywords:

peroral endoscopic myotomy – achalasia – pediatrics – POEM – endoluminal impedance planimetry

Introduction

Achalasia is classified as a functional esophageal disorder. It is characterized by impaired passage of food through the esophagus. In pediatrics, it is considered a rare disease, with an incidence of 0.1–0.18 per 100,000 children per year [1,2]. Although the disease is most commonly diagnosed during adolescence, there is a case in the literature of its occurrence in a child only 7 weeks old [3]. In childhood, the disease is more frequently seen in individuals with Down syndrome or as part of the so-called AAA syndrome, which is a coincidence of achalasia, alacrimia, and adrenal insufficiency [4].

The clinical manifestations of achalasia include dysphagia, weight loss, failure to thrive, and vomiting. Additionally, chronic cough, hoarseness, recurrent pneumonia, growth disorders, and feeding difficulties are observed [4]. It is not uncommon for patients with achalasia to be misdiagnosed and long-term monitored under the diagnosis of gastroesophageal reflux disease (GERD) or even eating disorders.

In diagnosing the disease, we most often use esophageal X-ray passage [5]. The diagnosis is definitively confirmed by high-resolution esophageal manometry (HRM), which requires patient cooperation, significantly limiting its use in younger age groups [5]. A promising alternative to HRM (not only) in young children could be endoluminal impedance planimetry, which had been used in our patient [6]. Suspicion of the disease also can be raised during esophagogastroduodenoscopy.

Case

The described patient came under our care at the age of 3.5 years. The girl was born after a physiological pregnancy to completely healthy parents. In the first months of life, slight psychomotor delay was noticeable, requiring regular rehabilitation. The child was failing to thrive and was smaller in stature. It was considered that her difficulties were due to a functional blockage of the cervical spine, known as KISS syndrome, but targeted rehabilitation care did not significantly improve this condition. As the child grew older, she experienced increased illness, particularly in the form of recurrent respiratory infections. Three months before admission to our clinic, she developed a chronic cough. The patient’s general practitioner tried various antitussives, bronchodilators, and finally empirical antibiotic (ATB) therapy. None of these interventions provided relief. The cough became increasingly intense, leading to recurrent vomiting, which caused significant weight loss approaching 15% of the patient’s original weight. This led to her hospitalization at our facility.

During the initial diagnostic block, inflammatory infiltration was found on the chest X-ray with a slight elevation of C-reactive protein (CRP), to which we responded with empirical antibiotic (ATB) therapy. Other biochemical and serological laboratory tests indicated no significant pathology. The girl did not suffer from anemia, had no micronutrient deficiencies, and had physiological values for renal, liver, and pancreatic parameters. The ultrasound of the abdominal organs showed no abnormalities.

Because the ATB therapy for pneumonia did not lead to significant improvement in the patient’s clinical condition, further diagnostics were undertaken. In the context of clinical difficulties, we performed an esophageal X-ray passage. The images showed significant esophageal dilation, 20 mm in the proximal third and 27 mm in the distal third, with stagnation of contrast material above the cardia, resembling esophageal achalasia (Fig. 1). During subsequent esophagogastroduodenoscopy, stagnant content was observed in the dilated esophagus and increased cardia tone. We performed balloon dilation of the cardia first to 12 mm and later to 14 mm, but both had only very short-lasting clinical effects, lasting only a few weeks.

We subsequently referred the patient to a center in Prague performing peroral endoscopic myotomy (POEM). Due to the patient’s age, a standard high-resolution esophageal manometry could not be performed, so, before the procedure, endoluminal impedance planimetry with both sphincter distensibility and esophageal topography assessment (EndoFLIP^TM, Medtronic) was conducted. This definitively confirmed the diagnosis of type I achalasia, with Distensibility Index 3 mm²/mmHg (Fig. 2). The POEM procedure followed, the patient undergoing it at the age of 3 years and 10 months. The procedure proceeded completely without complications, and a myotomy 6–7 cm in length with a 3-cm extension into the cardia was performed (Figs 3, 4). Postoperative EndoFLIP^TM examination indicated significant improvement in the distensibility index to 4–5 mm²/mmHg. The subsequent recovery was very favorable. The procedure led to complete resolution of the clinical condition, with a gradual increase in body weight and a return to physiological growth rate. The Eckardt score normalized. Before and after the procedure, the patient was on proton pump inhibitors.

Discussion

The therapeutic options for achalasia are today quite broad. Initially, we typically intervene with endoscopic balloon dilation, as we had done with our patient [5]. A disadvantage of this procedure is that, in order to achieve the desired clinical effect, repeated dilations are often necessary, which in pediatric patients always involves general anesthesia. Another alternative that can be undertaken prior to potentially more invasive methods is the injection of botulinum toxin into the lower esophageal sphincter area [5]. The limitation of this approach is again its short-term effect. If these two mentioned methods fail, then it is necessary to resort to more invasive therapies. The most common procedure is the classic, and today laparoscopic, Heller myotomy (LHM), with which there is already long-term experience [7]. The procedure is usually complemented by fundoplication in one session.

The modern alternative to Heller myotomy is the minimally invasive endoscopic technique for treating esophageal achalasia, known as POEM. This procedure was first performed on an adult patient in 2008 by Prof. Inoue [8], and subsequently in our country in 2012 [9]. The first POEM in a pediatric patient was also performed in 2012 [10]. It involved a 3-year-old patient with Down syndrome who was struggling with growth retardation, chronic cough, vomiting, and aspiration pneumonia. The subsequent 12-month follow-up was without complications or recurrence of symptoms. The youngest child in the world to successfully undergo POEM was an 11-month-old infant [11]. Recently, Slovak colleagues published a report on a series of 10 pediatric patients who had undergone POEM [12]. The youngest of these had been 5 years old at the time of the intervention. According to our best knowledge, our patient is the youngest Czech and Slovak patient to successfully undergo this procedure.

When comparing the clinical efficacy of POEM with LHM, the two methods are deemed equivalent. A large multicenter randomized trial in the adult population of esophageal achalasia patients published in 2018 describes a positive clinical effect over a 2-year follow-up in 83% of patients who underwent POEM, compared to 82% of patients after LHM [13]. No differences were observed in the post-procedural monitoring of lower esophageal sphincter function by high-resolution manometry, incidence of serious complications, or length of hospital stay [13]. From a pediatric perspective, the shorter duration of the POEM procedure compared to laparoscopic surgery is certainly a positive, as it reduces the duration of exposure to general anesthesia for the child [13,14]. However, the limitation of POEM remains the more frequent development of GERD and its associated complications [13,15]. Therefore, long-term follow-up and monitoring of these patients are necessary.

Conclusion

With this case report, we would like to raise awareness among the professional community about the availability of this method, which represents an equivalent and safe alternative to classical surgical therapy for esophageal achalasia in pediatric patients. According to available data, it is not yet possible to state which therapeutic approach is unequivocally better for pediatric patients. The efficacy and incidence of serious complications are comparable. Advantages of POEM can be found in the shorter duration of the procedure and the method’s favorable cosmetic outcome. Caution is necessary in the context of higher incidence of gastroesophageal reflux disease. An individualized approach appears optimal when choosing the appropriate therapeutic method for each patient while ideally involving the parents in the decision-making process.

References