Department of Neurology, Medical University of Warsaw, Poland.
Department of Neurology, Medical University of Warsaw, Poland.
Neurol Neurochir Pol. 2017 Nov-Dec;51(6):514-518. doi: 10.1016/j.pjnns.2017.08.005. Epub 2017 Aug 16.
Diencephalic-mesencephalic junction dysplasia (DMJD) is very rare congenital brain malformation. We present a 66-years-old man with mild cognitive impairment, dysarthria, deafness, gait abnormality, and involuntary movements of the trunk. The first symptoms, psychomotor excitation and anxiety begun when he was over thirty years old however the symptoms gradually intensified and slowly progressed. The magnetic resonance imaging scans showed partial DMJD. According to recent date it represented type-B of the malformation with relatively mild phenotype in relation to the previously described in literature type-A. To the best of our knowledge this is the first description of an adult patient diagnosed with DMJD anomaly.
间脑-中脑连接部发育不良（DMJD）是一种非常罕见的先天性脑畸形。我们报告了一例 66 岁男性患者，表现为轻度认知障碍、构音障碍、耳聋、步态异常和躯干不自主运动。该患者首发症状为三十多岁时出现的精神运动兴奋和焦虑，但症状逐渐加重，进展缓慢。磁共振成像扫描显示部分 DMJD。根据最近的资料，该患者属于畸形的 B 型，与文献中描述的 A 型相比，其表型相对较轻。据我们所知，这是首例诊断为 DMJD 异常的成年患者。
