Gastric outlet obstruction in neurofibromatosis type

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Introduction

A 70 year old gentleman presented to the Emergency Department with vomiting and significant weight loss over a four week period. Views on initial gastroscopy were limited due to a large residual gastric volume so a repeat procedure after prolonged fasting was arranged, where biopsies taken from the pyloric region proved insufficient for diagnosis. CT revealed a thickened gastric pylorus as well as a 5.5cm soft tissue mass arising from the fundus, consistent with gastrointestinal stromal tumour (GIST).

On examination it was evident that he had numerous limb lesions, axillary freckling and short stature consistent with neurofibromatosis type 1 (NF-1). This diagnosis generated considerable interest among the multidisciplinary team and after careful discussion he underwent total gastrectomy for the obstructing lesion of uncertain underlying pathology. Our patient may have been at significant risk of further gastroduodenal tumours had he undergone only a partial gastrectomy.

NF-1 is a rare autosomal dominant condition, with a 25% risk of developing GISTs. Diagnosis in older age is unusual and this presentation whereby it is diagnosed in patients presenting with gastrointestinal neoplasms is even more so. The condition not only has implications for patients but also for family members as they are prone to the same condition and associated neuroendocrine/gastrointestinal tumours. In everyday practice a high index of suspicion is required to allow early diagnosis and onward management.