Recurrent gastrointestinal bleeding in a patient with type 1 neurofibromatosis

Type 1 neurofibromatosis (NF1) is a hereditary disorder with an incidence of approximately 1:3000 at birth. Gastrointestinal (GI) lesions occur in approximately one-third of the patients, with most being asymptomatic and diagnosed incidentally. Symptomatic lesions leading to GI bleeding are uncommon...

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Bibliographic Details
Published in:BMJ case reports 2019-06, Vol.12 (6), p.e226303
Main Authors: Gandhi, Vidhyachandra, Gautam, Pratik, Chharchhodawala, Taher, Pai, Nitin
Format: Article
Language:English
Subjects:
Abdomen
Aged
Brain cancer
Case reports
Colonoscopy
Diagnosis, Differential
Endoscopy
Family medical history
Gastrointestinal Hemorrhage - complications
Gastrointestinal Hemorrhage - diagnosis
Gastrointestinal Hemorrhage - surgery
Genetic disorders
Histopathology
Humans
Jejunal Neoplasms - complications
Jejunal Neoplasms - diagnosis
Jejunal Neoplasms - diagnostic imaging
Jejunal Neoplasms - surgery
Laboratories
Male
Medical imaging
Mutation
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - diagnosis
Neurofibromatosis 1 - diagnostic imaging
Neurofibromatosis 1 - surgery
Neurological disorders
Patients
Recurrence
Reminder of Important Clinical Lesson
Tomography, X-Ray Computed
Tumors
Ultrasonic imaging
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Description
Summary:Type 1 neurofibromatosis (NF1) is a hereditary disorder with an incidence of approximately 1:3000 at birth. Gastrointestinal (GI) lesions occur in approximately one-third of the patients, with most being asymptomatic and diagnosed incidentally. Symptomatic lesions leading to GI bleeding are uncommon. We share our experience of an elderly man with NF1, who presented with massive recurrent GI bleeding secondary to jejunal neurofibromas. The lesions were identified on CT scan of abdomen, and the patient was managed with resection of the involved bowel segment.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2018-226303