Neurofibromatosis type 1-related multiple plexiform neurofibromas: A case report

Abstract

Neurofibromatosis type 1 (NF1) and type 2 (NF2) are autosomal dominant diseases. Patients with NF1 or NF2 have the potential to develop benign and malignant tumors. We present a 17-year-old patient with undiagnosed NF1-related multiple plexiform neurofibromas (PNs). The patient was admitted to our department for his left limb paresthesia. He had café-au-lait spots spread over his body and his cervical, thoracic, and lumbosacral magnetic resonance imaging (MRI) of the spine showed multiple PNs. Among his family members, only his father had café-au-lait spots. He refused to have genetic analysis and biopsy of the lesions. Even though clinical symptoms of neurofibromas vary according to the localization of lesions, it is known that PNs could be asymptomatic throughout life. Surgical treatment for PNs is essential. Phase 2 clinical trials have been performed for the medical treatment of PNs and further research on this subject is ongoing. Extensive growth of the tumors and invasion of surrounding tissues made resection of PNs difficult in the patient. Therefore, he had annual MRI follow-ups to assess the growth rate of the neurofibromas and transformation to malignant peripheral nerve-sheath tumors. This case was demonstrative to show multiple PNs. The presence of as much multiple PNs as in our patient is rare.