Chronic Constipation Caused by Neurofibromatous Proliferation in A Case of Von Recklinghausen’s Disease – A Case Report

Abstract

Neurofibromatosis (NF) is an autosomal dominant genetic disorder with a myriad of clinical manifestations . A gastrointestinal involvement which is present in 10 -25% of patients, is usually a systemic manifestation of generalised NF. We are describing a case of NF 1 with chronic constipation, in whom colonoscopy revealed a thickening of the colon wall with narrowing. A mucosal biopsy showed neural hyperplasia .This case emphasizes the value of minimally invasive endoscopic biopsies of GI lesions in NF1, where despite a limited sampling, correlation with clinical and endoscopic features may help in reaching a diagnosis of a neurofibromatous proliferation. We have also discussed the differential diagnosis of gastrointestinal lesions in NF with neural hyperplasia.

Keywords

• neurofibromatosis
• neural proliferation
• git
• constipation
• mucosal biopsy