An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy.
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy.
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DOI：
10.2169/internalmedicine.1141-18
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发表时间：
2018-12-01
期刊：
影响因子：
--
通讯作者：
Iwata A
中科院分区：
文献类型：
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作者：
Yamaguchi N;Mano T;Ohtomo R;Ishiura H;Almansour MA;Mori H;Kanda J;Shirota Y;Taira K;Morikawa T;Ikemura M;Yanagi Y;Murayama S;Shimizu J;Sakurai Y;Tsuji S;Iwata A
神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，其临床表现多种多样。虽然特征性神经影像学和皮肤活检结果是诊断的重要线索，但尸检研究对于确认确切的疾病特征仍然很重要。我们在此报告一名患者的病例，该患者在生前被诊断为具有痴呆为主表型的家族性 NIID，后来经尸检证实。我们的报告首次记录了尸检确诊的 NIID 病例，涉及认知障碍和感觉运动神经病。
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.