Ann Thorac Surg 2006;81:1138-1140
© 2006 The Society of Thoracic Surgeons
Case report
Neurofibromatosis of the Esophagus
Giuseppe S. Sica, MD, PhD
a
,
*
,
Vejay Sujendran, MD
a
,
Brian Warren, MD
b
,
Nicholas D. Maynard, MD, MS
a
a Department of Surgery, John Radcliffe Hospital, Headington, Oxford, United Kingdom
b Department of Pathology, John Radcliffe Hospital, Headington, Oxford, United Kingdom
Accepted for publication February 1, 2005.
* Address correspondence to Dr Sica, Department of Surgery, Tor Vergata School of Medicine, University of Tor Vergata, Viale Oxford 81, Rome, 00133 Italy (Email: sica.giuseppe{at}fastwebnet.it).
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Abstract
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There have been previous reports suggesting an association between von Recklinghausen's neurofibromatosis and esophageal dysmotility. We report the first case of true Recklinghausen's neurofibromatosis of the esophagus leading to end-stage pseudoachalasia. The diagnosis and management of this condition is discussed together with the pathogenesis and pathology of this rare entity.
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Introduction
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Von Recklinghausen's neurofibromatosis is an autosomal dominant disorder. As many as 25% of patients with this disorder have gastrointestinal tract involvement, mostly of the small bowel or colon [1]. Recently the association of neurofibromatosis and gastrointestinal stromal tumor has been highlighted [2]. We report a patient with end-stage pseudoachalasia due to neurofibromatosis involving the esophagus.
A 56-year-old man presented with a history of progressive dysphagia. He was diagnosed with neurofibromatosis more than 30 years previously. He was referred as having had three subsequent endoscopies reporting a malignant looking stricture in the lower oesophagus and dilatation of the proximal esophagus. Repeated biopsies had failed to prove malignancy. At this stage a computerized tomographic scan suggested a bulky tumor of the distal esophagus with left gastric nodal enlargement.
Examination was unremarkable apart from multiple dermatofibromas and evidence of weight loss. Repeat endoscopy showed a dilated and tortuous oesophagus and a 2 cm narrowing at 35 cm from the incisors. Repeated biopsies again failed to confirm any neoplastic process. A narrowing of the lower esophagus and gastroesophageal junction from a submucosal eccentric mass was shown at barium swallow; the dilated thick-walled esophagus had features compatible with achalasia. Esophageal manometry failed to assess the lower esophageal sphincter as the catheter repeatedly curled up in the body of the esophagus, but assessment of the main body of the esophagus showed absent peristalsis. Computerized tomographic scan with contrast-enhanced prone images with carbex demonstrated a circumferentially thickened esophagus with a 2-cm diameter submucosal mass protruding into the esophageal lumen. Endoscopic ultrasound showed infiltration of the muscularis propria with multiple neurofibromas (Fig 1).
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Fig 1. Ultrasound endoscopy (bottom right) correlating with macroscopic (left) and microscopic (top right) findings.
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A diagnostic laparoscopy showed multiple nodules around the gastroesophageal junction and also throughout the small bowel mesentery. Specimens were obtained for histology and a feeding jejunostomy was placed for nutritional support. Histology of the nodules confirmed neurofibromatosis. Subsequently the patient underwent two radiologic pneumatic dilatations up to 40 mm to provide symptomatic relief, but his dysphagia recurred rapidly. Because of refractory symptoms and after discussion with the patient, esophagectomy through a left thoracoabdominal incision and a left cervical incision was performed. Reconstruction was made through a gastric tube anastomosed to the cervical esophagus. The patient has made an uneventful recovery with no significant complications over the past 12 months follow-up.
The specimen consisted of a dilated thick walled esophagus (Fig 1) with an obvious narrowing just above the gastroesophageal junction where multiple neurofibromas were present. The vagus nerves were also abnormal and thickened. Microscopic examination (Fig 1) confirmed plexiform neurofibromatosis surrounding the distal esophagus and gastroesophageal junction. Furthermore there were multiple plexiform neurofibromas throughout the esophageal wall, extending deep into the muscularis propria.
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Comment
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This is the third report of achalasia complicating von Recklinghausen's neurofibromatosis. The first report [3] was of a 56-year-old man who underwent a pneumatic dilatation of the cardia with immediate relief of dysphagia. Unfortunately the patient died of a brain infarct briefly thereafter. At autopsy the macroscopic appearances were typical of achalasia with dilatation and thickening of the esophageal wall, but no evidence of neurofibroma. At histology there was severe hypoganglionosis in the myenteric plexus, but again no evidence of neurofibroma. The authors observed that such severe hypoganglionosis could not be entirely explained on the basis of myenteric plexus enlargement. They hypothesized that hypoganglionosis may have resulted from transsynaptic degeneration or from abnormal embryological development of neural crest cells concluding that disturbance of gastrointestinal motility may occur in neurofibromatosis, but the underlying mechanism is not clear. In the second report of associated neurofibromatosis and achalasia [4], a 69-year-old patient underwent a Heller's esophagomyotomy. No perineural fibrosis or neurofibromas were seen. Full thickness esophageal biopsy taken at surgery showed no histologic abnormality. They also highlighted the association of gastrointestinal disturbance and neurofibromatosis. There are other reports of esophageal neural tumors, but these are classically the small granular cell tumors of the esophagus found incidentally in the distal esophagus at endoscopy [5]. A second, smaller group of neural tumors, consisting of either benign schwannomas or neurofibromas have been described as single tumors of the esophagus. This second group of tumors were found in patients who had symptoms on presentation and were found to have large intramural tumors that were completely resected [6–8].
We hereby report the first documented case of neurofibromatosis of the esophagus in von Recklinghausen's disease leading to end-stage pseudoachalasia and requiring treatment by esophagectomy. In this case the initial presentation was unclear, and indeed it was initially believed that the patient had carcinoma of the esophagogastric junction. At laparotomy the mass formed by neurofibroma was clearly involving the lower esophagus and gastroesophageal junction. The patient had end-stage pseudoachalasia and underwent an esophagectomy and gastric pull-through. Histology showed multiple neurofibromas surrounding the distal esophagus and gastroesophageal junction, but also extending through the esophageal wall into the muscularis propria. We postulate that the mechanism of development of the advanced stage of pseudoachalasia was through diffuse infiltration of the distal esophageal muscularis propria and lower esophageal sphincter by multiple plexiform neurofibromas.
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References
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Abstract
Introduction
