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BMJ Case Reports 2018; doi:10.1136/bcr-2018-224174
  • Rare disease
  • CASE REPORT

Not so mass effect? Finding of a remarkable ‘incidentaloma’ in a teenager with neurofibromatosis

  1. Salah Mansy
  1. Department of Paediatrics, East Sussex Healthcare NHS Trust, Saint Leonards-on-Sea, UK
  1. Correspondence to Dr Daniel John Keen, dk9980{at}my.bristol.ac.uk
  • Accepted 26 April 2018
  • Published 14 May 2018

Summary

A 13-year-old boy with neurofibromatosis type 1 presented to the emergency department twice in a fortnight with moderate intermittent abdominal pain, radiating to the back and associated with nausea and vomiting. He examined as a well child with a soft abdomen and minimal tenderness. A history of constipation was identified but he failed to respond to a trial of laxatives. Subsequent ultrasound abdomen demonstrated a large mass surrounding the porta hepatis. MRI further characterised a focal, non-aggressive lesion extending from his liver, encapsulating his pancreas, portal vessels and laterally displacing his spleen and left kidney. Biopsy performed at a specialist cancer treatment hospital of our reference later confirmed this to be a benign neurofibroma of a size not previously reported in the literature. He will be managed conservatively with surveillance imaging and the potential for chemotherapy should the lesion continue to grow.

Footnotes

  • Contributors DJK and HN-B wrote the article under the supervision of SM.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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