Department of Neurology, Kansai Medical University Medical Center, 10-15, Fumizono-cho, Moriguchi, Osaka 5708507, Japan; Department of Neurology, Kansai Medical University, 2-5-1 Shinmachi, Hirakata, Osaka 5731010, Japan.
Department of Neurology, Kansai Medical University Medical Center, 10-15, Fumizono-cho, Moriguchi, Osaka 5708507, Japan.
J Neurol Sci. 2018 Sep 15;392:89-93. doi: 10.1016/j.jns.2018.07.012. Epub 2018 Jul 17.
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease defined by the presence of eosinophilic hyaline intranuclear inclusions. The initial and main clinical feature of adult-onset NIID is predominantly dementia. We present herein 2 cases of sporadic adult-onset NIID with longstanding urinary disturbance prior to development of other neurological symptoms. Case 1: A 71-year-old woman was admitted after she lost consciousness while bathing. She presented slowly progressive bladder dysfunction starting at the age of 40. Recently, she complained of recurrent light-headedness on standing. Her neurological findings showed miosis, muscle weakness, rigidity, hyporeflexia, sensory disturbance, cerebellar ataxia, and orthostatic hypotension. Case 2: A 68-year-old man was admitted because of episodes of transient loss of consciousness. Ten years earlier, he had developed urinary dysfunction. His neurological findings revealed cognitive dysfunction, cerebellar ataxia, and hyporeflexia. Both patients had leukoencephalopathy and motor-sensory neuropathy. In both cases, diffusion-weighted imaging showed high-intensity signals in the corticomedurally junction; and skin biopsy samples revealed ubiquitin-positive intranuclear inclusions. Therefore, we made a diagnosis of adult-onset NIID. Although numerous cases of this disorder have been reported in the past, there were only a few cases showing the development of other neurological symptoms after longstanding urinary disturbance. Our cases suggest that it is worthwhile considering the possibility of NIID in cases with a long-term history of neurogenic bladder dysfunction.
神经核内包涵体病（NIID）是一种以嗜酸性透明核内包涵体存在为特征的神经退行性疾病。成人发病型 NIID 的初始和主要临床特征主要为痴呆。本文报告了 2 例散发性成人发病型 NIID，在出现其他神经症状之前，长期存在尿路障碍。病例 1：一名 71 岁女性在洗澡时失去意识后入院。她在 40 岁时开始出现进行性膀胱功能障碍。最近，她抱怨站立时经常头晕。她的神经学检查显示瞳孔缩小、肌肉无力、僵硬、反射减弱、感觉障碍、小脑共济失调和直立性低血压。病例 2：一名 68 岁男性因一过性意识丧失发作而入院。10 年前，他出现了尿路功能障碍。他的神经学检查发现认知功能障碍、小脑共济失调和反射减弱。两名患者均有白质脑病和运动感觉神经病。在这两种情况下，弥散加权成像显示皮质-脑桥交界处的高强度信号；皮肤活检样本显示泛素阳性核内包涵体。因此，我们诊断为成人发病型 NIID。尽管过去有许多这种疾病的报道，但只有少数病例在长期尿路障碍后出现其他神经症状的发展。我们的病例表明，对于长期存在神经源性膀胱功能障碍的病例，值得考虑 NIID 的可能性。
