Halefoglu Ahmet Mesrur
Department of Radiology, Sisli Etfal Training and Research Hospital, Sisli, 34360 Istanbul, Turkey.
Case Rep Med. 2012;2012:498518. doi: 10.1155/2012/498518. Epub 2012 Sep 20.
Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen's disease, is one of the most common genetic disorders. It is inherited in an autosomal dominant pattern. Multiple cutaneous neurofibromas are hallmark lesions of NF1. Localized and plexiform neurofibromas of the paraspinal and sacral region are the most common abdominal neoplasms in NF1. Herein, we report two patients with a known history of NF1 presenting with multiple, extensive localized and plexiform neurofibromas. We describe the important distinguishing features of these tumors as seen on magnetic resonance imaging (MRI), including very bright signal intensity and target sign on T2 weighted images.
1型神经纤维瘤病（NF1），也称为外周神经纤维瘤病或冯雷克林霍增氏病，是最常见的遗传性疾病之一。它以常染色体显性模式遗传。多发性皮肤神经纤维瘤是NF1的标志性病变。脊柱旁和骶骨区域的局限性和丛状神经纤维瘤是NF1最常见的腹部肿瘤。在此，我们报告了两名有NF1已知病史的患者，他们表现为多发性、广泛的局限性和丛状神经纤维瘤。我们描述了这些肿瘤在磁共振成像（MRI）上的重要鉴别特征，包括T2加权图像上非常亮的信号强度和靶征。
