The kid who couldn’t burp: the management of a pediatric case of retrograde cricopharyngeal dysfunction

Abstract

Retrograde cricopharyngeal dysfunction is a newly described syndrome characterized by the inability to belch, loud abdominal gurgling, excessive flatulence, and pain or distension of the low neck, chest, or abdomen. Treatment is with botulinum toxin injection into the cricopharyngeus muscle. We present a pediatric case of this syndrome to increase awareness among the medical community and for clinicians to expand their index of suspicion for retrograde cricopharyngeal dysfunction.

Case Summary

A 17-year-old girl presented to the outpatient clinic with a lifelong inability to belch and daily intermittent abdominal gurgling that caused her to avoid eating in public, drinking through straws, or drinking carbonated beverages. She denied swallowing issues, voice changes, or chronic cough. She reported no history of tobacco use, allergies, or medication use. Past medical and surgical history was positive for migraines and tonsillectomy. Physical exam, including a comprehensive head and neck exam, was without acute findings. Flexible laryngoscopy revealed no abnormality of the right and left nasal cavities, nasopharynx, oropharynx, hypopharynx, and larynx. The cricopharyngeus muscle (CPM) was not prominent with Valsalva. Given her history and physical exam findings, retrograde cricopharyngeal dysfunction (RCP-D) was suspected. Cricopharyngeal botulinum toxin (BT) injection was recommended for both diagnostic confirmation and therapeutic intervention, and outpatient surgery was scheduled for several weeks later.

At the time of therapeutic intervention, the patient was satisfactorily placed under general anesthesia. Direct microlaryngoscopy performed with a Miller 3 laryngoscope revealed a hypopharyngeal web without any other significant findings. Sixty units of BT type A (BOTOX, Allergan) was injected into the CPM posteriorly. Four percent lidocaine was then applied to the vocal cords, and the patient was allowed to emerge from anesthesia. She was discharged the same day in stable condition. Postoperative pain was managed with acetaminophen 160 mg/5 mL elixir and ibuprofen 100 mg/5 mL suspension taken every 6 hours as needed.

Upon outpatient follow-up appointment on the sixth postoperative day, the patient reported significant improvement of symptoms and the ability to belch spontaneously beginning on the third postoperative day. She reported no further symptoms without repeat BT injection during 3-Month and 6-Month follow-up appointments.

Clinical Questions

1. Which of the following is not a common symptom of RCP-D?

   1. Inability to belch
   2. Dysphagia
   3. Loud abdominal gurgling
   4. Excessive flatulence
2. Which of the following have been investigated as potential treatments for RCP-D? (Select all that apply.)

   1. Transesophageal botulinum toxin injection into the CPM
   2. Percutaneous electromyography-guided botulinum toxin into the CPM
   3. Balloon dilation of the CPM
   4. Partial cricopharyngeal myotomy

Correct answers are given at the end of the article.

Discussion

Although symptoms similar to RCP-D were described as early as 1987, a new syndrome and its associated diagnostic criteria were formally codified in 2019 by Bastian et al.^1,2 The incidence of R-CPD has increased dramatically over the past several years due to awareness spread through social media, particularly via the Subreddit r/noburp on Reddit and TikTok.³ R-CPD is poorly described in pediatric populations, with just one case series focusing on the topic.⁴ The current management strategies are based on datasets of mixed adult (predominant subgroup) and pediatric patients, which are then applied to pediatric patients.

Presentation and diagnosis

Bastian et al defined R-CPD and codified its symptoms as a dysfunction of eructation with associated loud gurgling abdominal noises, low neck, abdominal, or chest pain and distension, and excessive flatulence.^2,5 Although some clinicians have attempted esophagoscopy, barium studies, or esophageal manometry in search of a diagnosis, the standard for diagnosing RCP-D continues to be the clinical fit of the symptoms to these criteria. Resolution of symptoms after BT injection is considered both diagnostic and therapeutic of RCP-D.^2,6,7

Management

In 2019, Bastian et al proposed treatment of R-CPD via a transesophageal injection of 50 U in 2 mL of BT into the CPM. The patient is induced under general anesthesia, and then using laryngoscopy, the CPM bulge is identified via palpation and injected. Though the effect of BT is expected to last approximately 3 Months, patient-reported relief from symptoms lasted upwards of 32 Months after BT treatment.² While pediatric responses to BT injection of the CPM are poorly described, studies on adults have found symptom resolution in 80% of cases.⁶ In 2021, Wajsberg et al (working under the purview of Bastian) proposed percutaneous electromyography (EMG)-guided BT injection into the CPM in the outpatient setting. Compared with the transesophageal approach, percutaneous EMG guidance has the benefit of avoiding esophagoscopy and general anesthesia, along with their associated complications. Since EMG guidance can be accomplished in the office, treatment could also be more expeditious compared to scheduling time in the operating room.⁶ A theoretical risk of EMG-BT injection may be the increased risk of erroneous injection at a site other than the CPM compared with transesophageal direct laryngoscopy. Erroneous BT injection unilaterally into the nearby posterior cricoarytenoid muscle may cause dysfunction of vocal fold abduction. Posterior cricoarytenoid injection bilaterally may cause dysphagia or airway obstruction.⁸ Alternatively, balloon catheter dilation for treatment of oropharyngeal dysphagia of a variety of etiologies, including RCP-D, has been investigated with success, and there is one report of BT-refractory R-CPD treated with partial cricopharyngeal myotomy.^5,9

RCP-D can be theorized to be caused by CPM hypertonicity, which could explain the treatment efficacy of BT injection that would induce laxity of the CPM. Notably, the CPM is a major component of the upper esophageal sphincter that has also been implicated in the pathogenesis of Zenker (hypopharyngeal) diverticulum. Future studies may be warranted on the longitudinal relationship between R-CPD and the incidence of Zenker diverticulum.¹⁰ Given the current lack of evidence regarding CPM hypertonicity and RCP-D, further studies may also investigate possible genetic predispositions or other risk factors for developing R-CPD.

Answers to Clinical Questions

1, b; 2, a, b, c, d.

Disclosure statement

The authors report no funding or conflicts of interest. The patient’s legal guardian provided signed consent for the use of clinical images and specifics of medical care for this case report.