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Gastrointestinal symptoms in neurofibromatosis type 1 (NF1) is increasingly recognised, usually associated with gastrointestinal stromal tumours (GIST). We describe a patient with NF1 who presented with recurrent bowel symptoms and pseudo-obstruction. At laparotomy, a segment of distended transverse colon was resected and histological examination revealed extensive dysplasia of the enteric nervous system different from GIST. These findings indicate that diffuse abnormalities of the gastrointestinal nerves may be symptomatic in patients with NF1 and should be considered as a possible cause of “functional bowel problems” in these patients. We suggest that the autonomic nervous system (eg, in the gastrointestinal system) can be involved similar to other peripheral nerves in NF1.
The patient, aged 73 years, had a NF1 diagnosed according to established consensus criteria.1 She had multiple small cutaneous neurofibromata, axillary freckling and café au lait spots. One large neurofibroma was …
Competing interests: None.
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