Case Presentation: A 37-year-old female veterinarian with past medical history of migraines was diagnosed with multiple sclerosis (MS) in December 2015. In April 2016, she was admitted with 3weeks of progressive dysphagia and 20lb weight loss. Although MRI of the brain and cervical spine obtained during admission showed no new lesions, her symptoms were initially thought to be due to an MS flare. She was treated with high dose IV steroids with no resolution of symptoms. Workup, including a barium swallow, showed fixed gastroesophageal junction luminal narrowing with beaklike configuration. The patient subsequently had a normal appearing EGD with normal biopsies. High resolution esophageal manometry was conducted which was diagnostic for primary achalasia. Despite serial EGDs with Botulism injections the patient’s dysphagia symptoms worsened, along with an unintentional weight loss of 30lbs. Due to this, the patient underwent a peroral endoscopic myotomy (POEM) with prolonged symptomatic relief.
Discussion: Multiple Sclerosis is the most common immune-mediated demylinating disease of the central nervous system. During acute MS flares, there is a high occurrence of oropharyngeal dysphagia in patients. Achalasia is a rare motor disorder of the esophagus due to the inability of the lower esophageal sphincter (LES) to relax. Clinical features include progressive dysphagia to both solids and liquids with regurgitation of food and saliva, heartburn, and weight loss. We report the first case, to our knowledge, of dysphagia due to primary achalasia in a patient with preexisting MS.
Conclusions: The etiology for MS has been a debate but the overall pathogenesis is characterized by inflammation, immune dysregulation, and immune over activity. Similarly, the true etiology of primary achalasia is unknown. Recent studies have analyzed the neural antibody profiles of patients with this diagnosis which suggests autoimmune and infectious factors are the most common causes. The serum of these patients did not have a particular autoantibody, however, there was a high frequency of several neural autoantibodies in these patients when compared to the control. Autoimmune disease is overall 3.6% more likely in patients with achalasia, but in a review of 193 patients with primary achalasia, none were found to be associated with MS. Dysphagia in MS patients, on the other hand, is mostly associated with impairment in the oral and pharyngeal phase of swallowing, and occasionally with dysfunction of the upper esophageal sphincter. Dysphagia has been estimated to occur in at least 33% of impaired MS patients and in 17% of MS patients with milder impairments. In addition, achalasia is rarely described in the setting of any central neurodegenerative disorder except for a few case reports of association with Parkinson’s disease. Given the limited number of cases of neurodegenerative disorders linked to primary achalasia, we propose that this patient’s predisposition to autoimmunity was unlikely the cause for achalasia.
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