Work

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

Year: 2024

Type: article

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.

Source: Medical Reports

DOI: 10.1016/j.hmedic.2024.100144

Authors: Ahmad Jradi, Mohamad Al Qassab, Bachar El Haj Sleiman, Karam Karam, Ihab I. El Hajj, Elias Fiani

Institution: University of Balamand

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $1,850