A Case of Progressive Cricopharyngeal Dysphagia in a Young Woman

Case at a Glance

A 25-year-old female with a lifelong history of Retrograde Cricopharyngeal Dysfunction (R-CPD) developed severe, progressive oropharyngeal dysphagia over two years, ultimately requiring a gastrostomy tube for nutrition. An extensive workup revealed cricopharyngeal hypertonicity as the primary finding. Temporary but significant relief was achieved with a botulinum toxin injection into the cricopharyngeus muscle, supporting the diagnosis of a primary upper esophageal sphincter (UES) dysfunction.

Patient's Story

The patient is a 25-year-old female with a two-year history of progressively worsening difficulty swallowing. The onset was insidious, beginning approximately two years prior with a sensation of throat tightness and difficulty managing saliva, which was initially attributed to environmental allergies. Over the next several months, her ability to swallow solid food deteriorated, forcing a transition to a soft diet. Within six months of onset, her dysphagia became so severe that she was unable to swallow even water, leading to multiple emergency department visits for dehydration and significant weight loss. She described the sensation as a delay in the opening of her throat sphincter during a swallow, causing a choking feeling. To consume even small amounts of liquid, she developed a compensatory habit of physically bracing herself by gripping onto a surface. The debilitating nature of her symptoms and the lack of a clear diagnosis caused significant emotional distress for both the patient and her family.

Initial Assessment

Upon initial presentation to gastroenterology and otolaryngology (ENT), the patient's primary complaint was oropharyngeal dysphagia. Her past medical history was notable for a lifelong inability to belch, consistent with Retrograde Cricopharyngeal Dysfunction (R-CPD). Physical examination was largely unremarkable. Initial investigations, including allergy testing, were negative. Given the progression of symptoms, she was referred for further specialist evaluation with neurology, ENT, and speech pathology.

The Diagnostic Journey

The patient underwent an exhaustive two-year diagnostic evaluation. Key findings were consistently localized to the upper esophageal sphincter (UES).

• Endoscopy: Eight separate upper endoscopies were performed, all of which noted a persistently tight UES that was difficult to traverse with the endoscope.
• Manometry: High-resolution esophageal manometry revealed an isolated finding of high pressure at the UES (cricopharyngeal hypertonicity).
• Swallow Studies: Both a standard esophagram (barium swallow) and a modified barium swallow study with a speech pathologist were performed and reported as normal, failing to demonstrate aspiration or a clear structural abnormality during the swallow itself.
• Imaging and Laboratory Tests: A brain MRI was performed to rule out a central neurological cause and was normal. Extensive laboratory testing for autoimmune conditions (e.g., myositis panel) and neuromuscular disorders (e.g., Myasthenia Gravis, Multiple Sclerosis) returned negative. The patient also underwent testing for mycotoxin exposure, which was positive for antibodies to Aspergillus, Penicillium, and Stachybotrys, though the clinical significance of this finding in relation to her dysphagia was uncertain.

Despite the clear manometric and endoscopic evidence of UES dysfunction, the patient was intermittently told her symptoms could be related to anxiety or an eating disorder, delaying targeted therapy.

Final Diagnosis

Dysphagia secondary to Cricopharyngeal Achalasia / Hypertonicity. While a definitive unifying diagnosis remained elusive for the clinicians, the constellation of symptoms, a tight UES on endoscopy, high UES pressure on manometry, and a positive response to targeted therapy strongly pointed to a primary disorder of the cricopharyngeus muscle.

Treatment Plan

The patient's management plan evolved over time in response to symptom severity and diagnostic findings.

1. Nutritional Support: Due to severe weight loss and dehydration, a percutaneous endoscopic gastrostomy (G-tube) was placed approximately one year into her illness to ensure adequate nutrition and hydration.
2. Therapeutic Trial of Botulinum Toxin: Approximately 18 months after symptom onset, the patient received an injection of 75 units of botulinum toxin directly into the cricopharyngeus muscle under endoscopic guidance. This resulted in a dramatic and immediate improvement. For three months, her ability to swallow liquids improved by an estimated 90%, and she could tolerate small amounts of soft solids.
3. Dilation: After the effects of the botulinum toxin waned and the patient had relocated, a new physician performed a through-the-scope balloon dilation of the UES to 16-17 mm. This provided modest, transient relief, significantly improving liquid intake for approximately two weeks before symptoms returned to baseline.
4. Rehabilitative Therapy: The patient engaged in speech therapy for nine months with no discernible improvement in swallowing function.

Outcome and Follow-up

At the time of this report, the patient remains dependent on her G-tube for primary nutrition. The marked but temporary success of the botulinum toxin injection serves as the strongest evidence for a primary cricopharyngeal muscle disorder. The less robust and shorter-lived response to mechanical dilation suggests that simple stretching was insufficient to overcome the hypertonicity. The patient continues to advocate for a repeat botulinum toxin injection, which has been challenging to secure due to provider reluctance in her new location. This case underscores the diagnostic and therapeutic challenges of severe cricopharyngeal dysfunction and highlights the potential efficacy of botulinum toxin as both a diagnostic and therapeutic tool. Future management considerations may include serial botulinum toxin injections or a more definitive surgical procedure, such as a cricopharyngeal myotomy.