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Volume : 25 Issue : 4 Year : 2019

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Neurofibromatosis Type 1 Related Multiple Plexiform Neurofibromas: A Case Report [Turk J Neurol]
Turk J Neurol. Ahead of Print: TJN-44520

Neurofibromatosis Type 1 Related Multiple Plexiform Neurofibromas: A Case Report

Tamer Bayram1, DERYA Bayram2, Hülya Tireli3
1Beykoz State Hospital, Department Of Neurology, İstanbul, Turkey
2Health Sciences University Sancaktepe Şehit Prof. Dr. İlhan Varank Training And Research Hospital, Department Of Neurology, İstanbul, Turkey
3Health Sciences University Haydarpaşa Numune Training and Research Hospital, Department of Neurology, Turkey

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 have presented an 17 year-old patient with undiagnosed NF1 related multiple plexiform neurofibromatosis (PNs). The patient was admitted to our department for his left limb paresthesia. He had spread cafe au lait spots on his body and his cervical, thoracic and lumbosacral MRI of spine showed multiple PNs. Among his family member, only his father had cafe au lait spots. He refused to have genetic analyze and biopsy of lesions. Even though clinical symptoms of neurofibromas vary according to localization of lesions, It’s 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 plexiform neurofibromas and researches on this subject are ongoing. Extensive growth of the tumors and invasion of surrounding tissues made resection of PNs difficult in the patient. Therefore he was followed-up with annual MRI controls to assess the growth rate of neurofibromas and transformation to malignant peripheral nerve-sheath tumors (MPNSTs). This case was demonstrative to show multiple plexiform neurofibromas. The presence of multiple PNs as much as our patients is a rare condition.

Keywords: Neurofibromatosis type 1, Plexiform Neurofibroma, Spinal Tumor




Corresponding Author: Tamer Bayram, Türkiye


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