An uncanny cause of abdominal pain: A case report of plexiform neurofibromatosis of the liver in a young patient with neurofibromatosis type 1

Abstract

Neurofibromatosis Type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant disorder caused by a mutation in the NF1 gene on chromosome 17, leading to neuro-cutaneous manifestations and, in rare cases, visceral involvement. We herein present a rare case of a 16-year-old female with NF1, who presented with persistent gastrointestinal symptoms. Physical examination and imaging revealed a large plexiform neurofibroma in the liver, compressing adjacent organs and causing symptomatic distress. Diagnostic imaging and multidisciplinary evaluation culminated in surgical intervention. Thereafter, we discussed the clinical manifestations, the rare hepatic involvement, diagnostics, and treatments for NF1.