Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report
Yıl: 2020 Cilt: 26 Sayı: 1 Sayfa Aralığı: 42 - 46 Metin Dili: İngilizce DOI: 10.4274/tnd.galenos.2019.44520 İndeks Tarihi: 02-05-2020
Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report
Öz: Neurofibromatosis type 1 (NF1) and type 2 (NF2) are autosomal dominant diseases. Patients with NF1 or NF2 have the potential to develop benign and malignanttumors. We present a 17-year-old patient with undiagnosed NF1-related multiple plexiform neurofibromas (PNs). The patient was admitted to our department forhis 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 spineshowed 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 thoughclinical symptoms of neurofibromas vary according to the localization of lesions, it is known that PNs could be asymptomatic throughout life. Surgical treatmentfor 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 growthof 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 growthrate of the neurofibromas and transformation to malignant peripheral nerve-sheath tumors. This case was demonstrative to show multiple PNs. The presence ofas much multiple PNs as in our patient is rare.
Anahtar Kelime: Konular:
Nörofibromatozis Tip 1 İlişkili Multipl Pleksiform Nörofibromlar: Bir Olgu Sunum
Öz: Nörofibromatozis tip 1 (NF1) ve tip 2 (NF2) otozomal dominant hastalıklardır. NF1 veya NF2 olan hastalar benign ve malign tümörler geliştirme potansiyeline sahiptir. NF1 tanısı olmayan çok sayıda pleksiform nörofibromu (PN) olan 17 yaşında bir hastayı sunduk. Hasta sol bacak parestezisi nedeniyle bölümümüze başvurdu. Vücudunda yaygın café-au-lait lekeleri olan hastanın servikal, torasik ve lumbosakral spinal manyetik rezonans görüntülemesinde (MRG) birden fazla PN saptandı. Aile üyeleri arasında sadece babasının café-au-lait lekeleri vardı. Hastamız genetik analiz ve lezyon biyopsisi yaptırmayı reddetti. Nörofibromların klinik semptomları lezyonların lokalizasyonuna göre değişmekle birlikte, PN’lerin yaşam boyunca asemptomatik olabileceği bilinmektedir. Cerrahi tedavi PN’ler için esastır. PN’lerin medikal tedavisi için faz 2 klinik çalışmalar bulunmaktadır ve bu konuyla ilgili araştırmalar devam etmektedir. Hastamızda tümörlerin yaygın şekilde büyümesi ve çevresindeki dokuları istila etmesi, tümörlerin rezeksiyonunu zorlaştırmıştır. Bu nedenle hasta nörofibromların büyüme hızını ve malign periferik sinir kılıfı tümörlerine dönüşümü değerlendirmek için yıllık MRG kontrolleri ile takip edildi. Bu olgu spinal MRG’sinde multipl PN’ler olması nedeni ile demonstratifti. Hastamızda olduğu gibi çok fazla sayıda PN’lerin varlığı nadir görülen bir durumdur.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Bayram T, BAYRAM D, Tireli H (2020). Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. , 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| Chicago | Bayram Tamer,BAYRAM DERYA,Tireli Hülya Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. (2020): 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| MLA | Bayram Tamer,BAYRAM DERYA,Tireli Hülya Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. , 2020, ss.42 - 46. 10.4274/tnd.galenos.2019.44520 |
| AMA | Bayram T,BAYRAM D,Tireli H Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. . 2020; 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| Vancouver | Bayram T,BAYRAM D,Tireli H Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. . 2020; 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| IEEE | Bayram T,BAYRAM D,Tireli H "Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report." , ss.42 - 46, 2020. 10.4274/tnd.galenos.2019.44520 |
| ISNAD | Bayram, Tamer vd. "Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report". (2020), 42-46. https://doi.org/10.4274/tnd.galenos.2019.44520 |
| APA | Bayram T, BAYRAM D, Tireli H (2020). Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Türk Nöroloji Dergisi, 26(1), 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| Chicago | Bayram Tamer,BAYRAM DERYA,Tireli Hülya Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Türk Nöroloji Dergisi 26, no.1 (2020): 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| MLA | Bayram Tamer,BAYRAM DERYA,Tireli Hülya Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Türk Nöroloji Dergisi, vol.26, no.1, 2020, ss.42 - 46. 10.4274/tnd.galenos.2019.44520 |
| AMA | Bayram T,BAYRAM D,Tireli H Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Türk Nöroloji Dergisi. 2020; 26(1): 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| Vancouver | Bayram T,BAYRAM D,Tireli H Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Türk Nöroloji Dergisi. 2020; 26(1): 42 - 46. 10.4274/tnd.galenos.2019.44520 |
| IEEE | Bayram T,BAYRAM D,Tireli H "Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report." Türk Nöroloji Dergisi, 26, ss.42 - 46, 2020. 10.4274/tnd.galenos.2019.44520 |
| ISNAD | Bayram, Tamer vd. "Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report". Türk Nöroloji Dergisi 26/1 (2020), 42-46. https://doi.org/10.4274/tnd.galenos.2019.44520 |
