Isolated Plexiform Neurofibroma at the Liver Hilum in a Pediatric Patient: A Case Report.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder, presenting with hallmark benign tumors including cutaneous and plexiform neurofibromas. Plexiform-type neurofibromas most commonly present in peripheral tissue nerves underlying the dorsal trunk, but rarely present in visceral organs such as the liver. This case presents a 12-year-old male patient with a history of NF1 who presented to the emergency department with non-specific abdominal pain. Hepatic sonography showed an infiltrating, nodular enhancement along the porta hepatis. A diagnosis of plexiform neurofibroma was made via MRI of the liver. Plexiform neurofibromas of the liver are a rare finding in patients with diagnosed NF1. However, plexiform neurofibromas should be considered as part of the differential diagnosis in NF1 patients presenting with a hepatic mass due to rare, but possible, malignant transformation. The potential transformation to malignant peripheral nerve sheath tumor (MPNST) requires post-diagnosis monitoring. This case adds to the body of literature highlighting a rare presentation of hepatic neurofibroma in a child with NF1, outlining the importance of considering plexiform neurofibroma as a differential diagnosis in an unknown hepatic or gastrointestinal visceral lesion.