Terao Y, Hashimoto K, Chiba A, Inoue K, Mannen T
Department of Neurology, University of Tokyo.
Rinsho Shinkeigaku. 1991 Sep;31(9):1010-4.
A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms have been gradually worsening for the past 25 years. His elder sister showed similar clinical symptoms and progressive course of illness. The patient showed no indication of mental retardation. Neurological examination showed dysarthria, slow dyskinetic movement of the tongue, dystonic posture of the left hand, tremor of irregular frequency of the right upper limb, diminished tendon reflex, positive Romberg's sign, diminished vibratory and position sense in the lower limbs and pyramidal signs. Cystometry indicated defective voiding of the bladder. Magnetic resonance imaging of the brain showed bilateral atrophy of the putamina, globus pallidus, caudate nuclei and substantia nigra. MRI showed similar findings in her sister. By electrophysiological and pathological examination, disorders of other systems were evident, such as upper motor neurons, and sensory tract. GM1 and GM2 gangliosidosis appeared the most likely diagnosis, but were ruled out on the basis of the result of lysozomal enzyme assay and rectal biopsy. The present patient's condition may possibly be the result of an unknown metabolic disorder, or a new disease entity affecting various components of the nervous system.
一名40岁男性因右上肢震颤、步态障碍和构音障碍入院。他在14岁之前发育过程正常，14岁时，在一次发热后出现言语和行走困难以及上肢震颤，且在过去25年中症状逐渐加重。他的姐姐有类似的临床症状和疾病进展过程。该患者无智力发育迟缓迹象。神经系统检查显示构音障碍、舌运动缓慢且有运动障碍、左手肌张力障碍姿势、右上肢不规则频率震颤、腱反射减弱、闭目难立征阳性、下肢振动觉和位置觉减退以及锥体束征。膀胱测压显示膀胱排尿功能障碍。脑部磁共振成像显示双侧壳核、苍白球、尾状核和黑质萎缩。磁共振成像在其姐姐身上也显示出类似结果。通过电生理和病理检查，其他系统也存在明显紊乱，如上运动神经元和感觉束。GM1和GM2神经节苷脂沉积症似乎是最可能的诊断，但根据溶酶体酶检测结果和直肠活检排除了该诊断。目前该患者的病情可能是一种未知代谢紊乱的结果，或是一种影响神经系统各个组成部分的新疾病实体。
