Matsumoto Arifumi, Suzuki Hiroyoshi, Tobita Muneshige, Hisanaga Kinya
Departments of Neurology and Clinical Research Center, National Hospital Organization, Miyagi Hospital.
Rinsho Shinkeigaku. 2016 Jul 28;56(7):486-94. doi: 10.5692/clinicalneurol.cn-000876. Epub 2016 Jun 30.
A 74-year-old female patient, who was diagnosed with neurofibromatosis type 1 (NF1) at the age of 40, was admitted with complaints of flickering vision and gait disturbance for the last 2 years. On admission, neurological examination revealed mild bilateral hearing loss and ataxia in the limb and trunk. Laboratory tests revealed anti-hepatitis C virus (HCV) antibody positivity and elevated HCV RNA by real-time polymerase chain reaction. The cerebrospinal fluid examination revealed a slightly yellowish appearance with elevated total protein levels. Gradient echo T2*-weighted brain magnetic resonance imaging (MRI) demonstrated a rim of hypointense lesions surrounding the surface of the cerebellum, brainstem, frontal and temporal lobes, and thalamus, which was considered as hemosiderin depositions. From these MRI findings, she was diagnosed as having superficial siderosis of the central nervous system. Cerebral angiography revealed an aneurysm-like dilatation at the bifurcation of the right internal carotid-posterior communicating artery. (99m)Tc-ethyl cysteinate dimer single-photon emission computed tomography revealed hypoperfusion in the bilateral frontal and temporal lobes. Pelvic plain X-ray, pelvic computed tomography, and lumbosacral MRI revealed a sacral defect and an anterior sacral polycystic meningocele communicating with the spinal subarachnoid space. The patient's symptoms gradually worsened, and she died of septic shock because of pyelonephritis at the age of 77. An autopsy was performed; on pathological examination, we did not observe any findings associated with rupture of the aneurysm-like dilatation in the bifurcation of the right internal carotid-posterior communicating artery and cerebral amyloid angiopathy. Because duropathies-a new neurological disease concept-have been implicated as a cause of bleeding in the superficial siderosis, the anterior sacral polycystic meningocele, a type of duropathies, was presumed to be the most probable bleeding source of the superficial siderosis in this patient. Bleeding from the meningocele might result from the vulnerability of vessel walls in NF1.
一名74岁女性患者，40岁时被诊断为1型神经纤维瘤病（NF1），因过去2年出现视力闪烁和步态障碍而入院。入院时，神经系统检查发现双侧轻度听力丧失以及四肢和躯干共济失调。实验室检查显示抗丙型肝炎病毒（HCV）抗体阳性，实时聚合酶链反应检测显示HCV RNA升高。脑脊液检查显示外观微黄，总蛋白水平升高。梯度回波T2*加权脑磁共振成像（MRI）显示小脑、脑干、额叶、颞叶和丘脑表面有一圈低信号病变，考虑为含铁血黄素沉积。根据这些MRI表现，她被诊断为中枢神经系统表面铁沉积症。脑血管造影显示右颈内动脉-后交通动脉分叉处有动脉瘤样扩张。锝（99m）-乙基半胱氨酸二聚体单光子发射计算机断层扫描显示双侧额叶和颞叶灌注不足。骨盆平片、骨盆计算机断层扫描和腰骶部MRI显示骶骨缺损以及与脊髓蛛网膜下腔相通的骶前多囊性脊膜膨出。患者症状逐渐恶化，77岁时因肾盂肾炎死于感染性休克。进行了尸检；病理检查时，我们未观察到与右颈内动脉-后交通动脉分叉处动脉瘤样扩张破裂和脑淀粉样血管病相关的任何表现。由于硬脊膜病——一种新的神经疾病概念——被认为是表面铁沉积症出血的原因，骶前多囊性脊膜膨出作为硬脊膜病的一种类型，被推测是该患者表面铁沉积症最可能的出血来源。脊膜膨出出血可能是由于NF1中血管壁的脆弱性所致。
