Zhou Qian, Tian Meiqun, Yang Huan, Luo Yue-Bei
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Department of Neurology, Hua Yuan People's Hospital, Jishou 416000, China.
Brain Sci. 2022 Oct 11;12(10):1377. doi: 10.3390/brainsci12101377.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with highly heterogeneous manifestations. Curvilinear hyperintensity along the corticomedullary junction on diffusion-weighted images (DWI) is a vital clue for diagnosing NIID. DWI hyperintensity tends to show an anterior-to-posterior propagation pattern as the disease progresses. The rare cases of its disappearance may lead to misdiagnosis. Here, we reported a NIID patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like (MELAS-like) episode, and reversible DWI hyperintensities. A review of the literature on NIID with MELAS-like episodes was conducted. A 69-year-old woman stated to our clinics for recurrent nausea/vomiting, mixed aphasia, altered mental status, and muscle weakness for 2 weeks. Neurological examination showed impaired mental attention and reaction capacity, miosis, mixed aphasia, decreased muscle strength in limbs, and reduced tendon reflex. Blood tests were unremarkable. The serological examination was positive for antibody against dipeptidyl-peptidase-like protein 6 (DPPX) (1:32). Brain magnetic resonance imaging (MRI) revealed hyperintensities in the left temporal occipitoparietal lobe on DWI and correspondingly elevated lactate peak in the identified restricted diffusion area on magnetic resonance spectroscopy, mimicking the image of MELAS. Skin biopsy and genetic testing confirmed the diagnosis of NIID. Pulse intravenous methylprednisolone and oral prednisolone were administered, ameliorating her condition with improved neuroimages. This case highlights the importance of distinguishing NIID and MELAS, and reversible DWI hyperintensities can be seen in NIID.
神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，临床表现高度异质性。扩散加权成像（DWI）上沿皮质髓质交界区的曲线状高信号是诊断NIID的关键线索。随着疾病进展，DWI高信号倾向于呈现从前向后的扩散模式。其罕见的消失情况可能导致误诊。在此，我们报告了1例伴有线粒体脑肌病、乳酸酸中毒和卒中样（MELAS样）发作及可逆性DWI高信号的NIID患者。我们对有关NIID伴MELAS样发作的文献进行了综述。一名69岁女性因反复恶心/呕吐、混合性失语、精神状态改变和肌肉无力2周就诊于我院门诊。神经系统检查显示精神注意力和反应能力受损、瞳孔缩小、混合性失语、四肢肌力下降以及腱反射减弱。血液检查无异常。血清学检查显示抗二肽基肽酶样蛋白6（DPPX）抗体阳性（1:32）。脑磁共振成像（MRI）显示DWI上左侧颞枕顶叶高信号，磁共振波谱显示在确定的扩散受限区域相应的乳酸峰升高，类似MELAS的影像。皮肤活检和基因检测确诊为NIID。给予静脉注射甲泼尼龙脉冲治疗及口服泼尼松龙，患者病情改善，神经影像学表现好转。该病例强调了鉴别NIID和MELAS的重要性，且NIID中可见可逆性DWI高信号。
