一例同时具有I型和II型神经纤维瘤病MR影像学特征的患者

IF 0.1 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
S. Wahab, R. Khan, Basmah Abdur Rashid, Nani Lampung
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引用次数: 0

摘要

神经纤维瘤病(NF) II型是一种常染色体显性遗传的神经皮肤疾病,其基因位点在22q12染色体上,双侧听神经鞘瘤是这种疾病的标志。NF II被认为是中枢神经纤维瘤病,而NF I是周围神经纤维瘤病。本病例报告一名15岁女性,以双侧耳鸣、听力丧失、低热及双侧下肢无力为主诉,影像学显示双侧听神经鞘瘤、脑膜瘤及小脊髓室管膜瘤,具有ⅱ型神经纤维瘤病的典型特征,并伴有咖啡斑、皮肤神经纤维瘤、网状神经纤维瘤等独特特征。左额叶白质束信号强度改变的焦点,这是NF1特有的。据我们所知,以前没有报道过NF-1和NF-2具有重叠特征的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A patient with features of both Neurofibromatosis I and Neurofibromatosis II on MR imaging
Neurofibromatosis (NF) type II is a neurocutaneous disease with an autosomal dominant pattern of inheritance with its gene locus on chromosome 22q 12 with bilateral acoustic schwannoma being the hallmark of this disease. NF II is considered central neurofibromatosis while NF I is the peripheral neurofibromatosis. This case report presents a case of a 15 year old female who came with  complaint of bilateral tinnitus, hearing loss, low grade fever and weakness in bilateral  lower limbs , which on imaging work up showed bilateral acoustic schwannoma, meningioma and  small cord ependymoma giving  the classical features of neurofibromatosis II along with unique features of cafe au lait spots,  cutaneous neurofibromas, plexiform neurofibromas, and focus of altered signal intensity in white matter tracts of left frontal lobe which are unique to NF1. To our knowledge no such previous case report with overlapping features of both NF-1 and NF-2 has been described before.
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来源期刊
Imagen Diagnostica
Imagen Diagnostica RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
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