MRI neuronal intranuclear inclusion disease; NIID
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1 MRI neuronal intranuclear inclusion disease; NIID
2 cm 74 kg / 123/82 mmhg MMSE26/ SS-A SS-B 5/μl 4, mg/dl 73 mg/dl <0.40 pg/ml102 pg/ml IgG index Hz α δ SCV FAB 13/ ) MRI FLAIR ADC Fig. 1 MRA ECD Fig. 2 MRI Fig MRI NIID 1 NIID 2, , MRI FLAIR 8 MRI NIID NIID 1968 Lindenberg Kimber NIID Liu NIID3
3 脳卒中様エピソードを繰り返した成人型神経核内封入体病の１例 Fig. 1 Brain MRI Fluid-attenuated inversion recovery image (A-D) shows diffuse high-intensity signal of white matter and cerebellar atrophy. Diffusion-weighted image(e) shows linear high intensity signals of corticomedullary junction, which shows iso-intensity of apparent diffusion coefficient map(f). Fig. 2 Brain 99Tc-ECD SPECT Cerebral blood flow shows decreased blood flow in the bil-frontotemporal lobes. 107
4 108 名 取 高 広 他 Fig. 3 Immunohistological study of skin biopsy samples with anti-ubiquitin antibodies The upper row demonstrates immunostaining with DAB. The lower row shows immunofluorescence staining with DAPI (blue) and ubiquitin (green). Arrow: ubiquitin. Scale bars = 10 μ m. 核内封入体が中枢神経の細胞のみならず 末梢 機能低下 5 例 16.1 小脳性運動失調 4 例 神経シュワン細胞や 平滑筋細胞 線維芽細胞 12.9 と続き 下肢筋力低下による歩行障 脂肪細胞および肝 腎 副腎 膵の細胞などに 害が高頻度に認められた また 経過中含めた 広範に分布していることを確認し 生検診断の 症状では 末梢神経障害による四肢筋力低下 3 可能性を報告した その後 2011 年に Sone や垂れ足が 18 例 58.1 と最も多い症状で らは NIID 患者の真皮の線維芽細胞 脂肪細 次いで小脳性構音障害や歩行障害 認知機能低 胞 汗腺細胞に抗ユビキチン抗体陽性の核内封 下がいずれも 12 例 38.7 が多く認められ 入体を認める一方で 健常人およびハンチント た また幼児型 若年型で少ない排尿障害 便 ン病 マチャド ジョセフ病 筋萎縮性側索 秘 起立性低血圧などの自律神経症状が 11 例 硬化症 多系統萎縮症やシャルコー マリー 35.5 と成人例では多く認められた Sone 11 では 成人発症例 57 例を孤発例 トゥース病などの神経疾患においては 核内封 らの報告 入体が認められないことを見出し 本疾患にお 38 例と家族例 19 例に分け臨床症状を報告して 1 ける皮膚生検の有用性が確立し NIID の報 おり 孤発例では認知機能低下が最も多い症状 告の増加に寄与している であるのに対して 家族例では認知機能低下を 新藤らの総説 10 において 既報告および自 験例の成人型 31 例の臨床症状が報告されてい 主徴とする群と四肢筋力低下を主徴とする群が あると報告している る 初発症状は 下肢筋力低下による歩行障 このように成人発症例では下肢筋力低下 歩 害が 13 例 41.9 と最も多く 次いで認知 行障害や認知機能障害が主徴となることが多い
5 MRI NIID 24 MRI MRA 1 18 MRI 1 Sone J, Tanaka F, Koike H, Inukai A, Katsuno M, et al.: Skin biopsy is usful for the antemortem diagnosis of neuronal intranuculear inclusion disease. Neurology, 76: , Munoz-Garcia D, Ludwin SK: Adult-onset neuronal intranuclear hyaline inclusion disease. Neurology, 36: , Liu Y, Mimuro M, Yoshida M, Hashizume Y, Niwa H, et al.: Inclusion-positive cell types in adult-onset intranuclear inclusion body disease: inplications for clinical diagnosis. Acta Neuropathol, 116: , Kimber TE, Blumbergs PC, Rice JP, Hallpike JF, Edis R, et al.: Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. J Neurol Sci, 160: 33 40, Zannolli R, Gilman S, Rossi S, Volpi N, Bernini A, et al.: Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Arch Neurol, 59: , Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, et al.: Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. Neurology, 65: , Takahashi-Fujigasaki J: Neuronal intranuclear hyaline inclusion disease. Neuropathology, 23: , Sone J, Kitagawa N, Sugawara E, Iguchi M, Nakamura R, et al.: Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry, 85: , Lindenburg R, Rubinstain LJ, Herman MM, Hydon GB: A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residumm of an old herpesvirus infection. Acta Neuropathol, 10: 54 73, (6): , Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, et al.: Clinicopathological features of adultonset neuronal intranuclear inclusion disease. Brain, , Sasaki T, Hideyama T, Saito Y, Shimizu J, Maekawa R, et al.: Neuronal intranuclear inclusion disease presenting with recurrent cerebral infarct-like lesions. Neurol and Clin Neurosci, 3: , 2015.
6 TIA 59 54: 622, : 369, : 287, : , : 229, Toyota T, Huang Z, Nohara S, Okada K, Kakeda S, et al.: Neuronal intranuclear inclusion disease manifesting with new-onset epilepsy in the elderly. Neurol Clin Neurosci, 1 3, A Case of Adult-onset Neuronal Intranuclear Inclusion Disease Associated with Repeated Stroke-like Episode; A Case Report Takahiro NATORI 1), Kazumasa SHINDO 1), Mai TSUCHIYA 1), Megumi FUKUMOTO 1), Ryusuke TAKAKI 1), Nobuo YAMASHIRO 1), Takamura NAGASAKA 1), Jun SONE 2), Gen SOBUE 2) and Yoshihisa TAKIYAMA 1) 1) Department of Neurology, University of Yamanashi 2) Department of Neurology, Nagoya University Graduate School of Medicine Abstract: A 56-year-old man had a transient symptom of left upper limb paralysis in 2010 but recovered within one day. After that, he experienced similar stroke-like episodes such as right upper limb paralysis, dysarthria and right hand clumsiness, which disappeared within 1 day and repeated twelve times. Brain diffusion-weighted(dwi) MRI shows linear high intensity area of corticomedullary junction in bilateral parietal areas. Therefore, we suspected a diagnosis of neuronal intranuclear inclusion disease(niid) and performed skin biopsy at right ankles. Intranuclear inclusion bodies were observed in fibroblasts, adipocytes and sweat glands, which were positive for an anti-ubiquitin antibody. We diagnosed him with NIID. Although NIID is reported to show various neurological symptoms, a few patients with stroke-like episodes have been reported. When we examine patients showing transient and repeated stroke-like episodes with linear high intensity areas on DWI of the brain, skin biopsy should be considered to investigate the possibility of NIID. Key words: neuronal intranuclear inclusion disease(niid), stroke-like episode, higher-order brain dysfunction, diffusion weighted image(dwi), skin biopsy
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