Introduction to a Rare Condition
Isabelle Zeidner, a 23-year-old, first noticed something was amiss with her body at the age of 9 or 10. She experienced excessive saliva and gurgling noises during head colds that resembled the sounds of a toad croaking. These symptoms were not only strange but also persistent, continuing through her high school years.
Symptoms and Misdiagnosis
Zeidner’s symptoms included gurgling noises when consuming certain foods and flatulence, burning, and vomiting when the gurgling occurred. Those closest to her dismissed her problem as acid reflux, but Zeidner actually had a condition known as retrograde cricopharyngeal dysfunction (R-CPD). This condition is characterized by the inability to belch due to a muscle at the top of the esophagus not relaxing properly, affecting the passage of air from the esophagus to the throat.
Diagnosis and Treatment
Zeidner underwent endoscopy and a gastric emptying study in college to examine her digestive system, but the tests came back normal. It wasn’t until she saw Dr. Seth Kaplan, an otolaryngologist, that she received a proper diagnosis. Kaplan typically conducts a head and throat examination and asks patients four questions to determine if they have R-CPD: Have you ever been able to burp? Did you increase passing gas? Do you have reinforced flatulence? Do you have pressure in your upper chest and neck and/or gurgling noises? Zeidner found quick relief with a single Botox injection in her cricopharyngeal muscle to relax it and allow air to escape.
Understanding R-CPD
The cricopharyngeus muscle acts as a flap that relaxes to allow food to enter the esophagus and air to escape. When swallowing normally, it relaxes briefly to prevent reflux. However, the underlying causes of R-CPD, also known as "no burp syndrome," are not fully understood. Potential factors include neurological issues, gastroesophageal reflux disease (GERD), and abnormal muscle function, possibly due to increased muscle tone.
Symptoms and Treatment Options
The hallmark symptoms of R-CPD include the inability to burp, coo, or make other noises in the throat, abdominal bloating, chest pressure, and sometimes pain. If left untreated, R-CPD can lead to chronic complaints, esophageal delays, and even perforation of the esophagus in severe cases. Treatment options include cricopharyngeal myotomy, which involves cutting the muscle, but Kaplan has a 90% success rate with Botox injections and almost 100% after a second injection if necessary.
Recovery and Outcome
It usually takes two to three days for the Botox injection to take effect, and a common side effect is a mild sore throat for a day or two. Some patients may experience excessive or uncontrollable burping for two to three weeks. Patients can typically start drinking carbonated drinks five to seven days after the procedure. For Zeidner, the treatment has been a lifesaver, significantly reducing her digestive issues and bloating.
