Secondary Esophageal Pseudoachalasia Associated with Von Recklinghausenʼs Neurofibromatosis

Abstract

Purpose: Von Recklinghausen's disease, or Neurofibromatosis (NF) type 1, is an autosomal dominant genetic disorder with an incidence of approximately 1 in 2600 individuals. There is GI involvement in 25% of patients affected and is most often found in the small bowel or colon. Rarely, it is associated with motility disorders such as achalasia. We report a patient with pseudoachalasia secondary to NF involving the esophagus. A 48 year-old man presented with a history of progressive dysphagia to solid food and liquids. He also had frequent episodes of regurgitation after eating and subsequently developed a food phobia with a 15-pound weight loss over 2 months. He had been diagnosed previously with NF with multiple cutaneous neurofibromas. On physical exam, his skin was diffusely covered with dermatofibromas of various sizes with evidence of dehydration and weight loss. Contrast-enhanced CT scan demonstrated marked dilation of the esophagus with smooth tapering from the distal esophagus to a circumferencially thickened gastroesophageal (GE) junction. EGD found multiple nodular entities surrounding the GE junction (Figure 1). Pathology revealed squamocolumnar junctional mucosa with mild chronic inflammation without intestinal metaplasia or dysplasia. A barium swallow was consistent with achalasia. Manometric examination confirmed the diagnosis with an elevated resting lower esophageal sphincter pressure of 50-70 mmHg (normal <25 mmHg) and aperistalsis. The patient subsequently underwent a laparoscopic Heller esophageal myotomy with Dor fundoplication. Pathology revealed chronic inflammation with no changes in ganglion cell number or myenteric nerves. This is the fourth report of a motility disease as a result of Von Recklinghausen's NF. In conclusion, although most patients with Von Recklinghausen's disease have GI involvement of the small bowel and colon, it is also possible to have esophageal involvement and motility disorders. It is important for clinicians to be aware of the symptoms and signs of achalasia in these patients for early diagnosis and prevention to end-stage disease.Figure