Spastic Achalasia and Detrusor Spasm: Combined Visceral Neuromuscular Disorders in a Patient with Williamʼs Syndrome

Abstract

Introduction: William's syndrome is a rare congenital disorder caused by deletions at chromosomal band 7q11.23. The condition is characterized by distinctive facies, gregarious personality, developmental delay and supravalvular aortic stenosis. Spastic motility disorders and diverticulosis of the bladder are often seen. Abdominal pain, constipation, gastroesophageal reflux and colonic diverticulosis are gastrointestinal manifestations of William's Syndrome. However, spastic motility disorders of the esophagus have not previously been described. Case Description: The patient is a 37-year-old male with William's syndrome. He exhibited neonatal failure to thrive, without the typical swallowing difficulties expected in infants with William's syndrome. Bedwetting was reported until the age of four years old and was corrected by training with an enuresis alarm. At age 25, the patient developed a poor urinary stream, straining, and incomplete bladder evacuation. A urodynamic study showed detrusor spasm. A suprapubic catheter was placed at age 27. When the patient was 33 years old, he was evaluated for severe abdominal pain and mild dysphagia. Abdominal examination was unremarkable. A computed tomography (CT) scan of the abdomen revealed dilation of the esophagus above the esophageal hiatus. An upper endoscopy showed esophageal diverticula. This was confirmed by an esophagram displaying a large epiphrenic esophageal diverticulum (4-5 cm in diameter) and a second more proximal diverticulum (2-3 cm in diameter). The patient began to experience worsening dysphagia and weight loss (from 120 pounds to 100 pounds), and vomiting after eating. An esophageal manometry performed at a tertiary care center showed a large transition zone defect in the mid-esophagus and very rapidly conducted distal contractions. Retrograde escape occurred with about 50% of the esophageal contractions. These findings are consistent with the manometric diagnosis of spastic achalasia. Botulinum toxin A (Botox) injection or esophageal myomectomy were recommended but declined by the patient and his family. A pureed diet was initiated with subsequent weight gain and marked improvement of dysphagia. Discussion: Detrusor spasm and diverticulosis of the bladder are frequently described in patients with William's syndrome. To our knowledge, spastic achalasia (a very rare esophageal motility disorder) and esophageal diverticula are new findings in this condition. We propose that esophageal and bladder motility disorders are part of an overall visceral neuromuscular defect related to the pathophysiology of William's syndrome. Physicians should recognize the potential for esophageal motility disorders in patients with William's syndrome.