Sinard J H, Hedreen J C
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
Mov Disord. 1995 May;10(3):305-11. doi: 10.1002/mds.870100313.
We present a case of an 80-year-old man who developed a seizure disorder at age 66 and was treated with chronic phenytoin. In the last 3 years of his life, he developed multiple neurological deficits, including bilateral chorea, ataxic gait, sensory neuropathy, and progressive dementia. After death from pneumonia, autopsy examination of the patient's brain was most remarkable for a selective loss of neurons from both subthalamic nuclei and Purkinje cell loss in the cerebellum. This pattern of injury is consistent with a toxic process and does not fit previously characterized pathological syndromes known to be associated with movement disorders or dementia or both. Phenytoin has been shown to cause choreiform movements, peripheral neuropathy, and cognitive decline in some patients, but the pathological basis for these changes has not been elucidated. The patient's chorea was very likely the result of neuronal loss in the subthalamic nuclei, but causes for his dementia and neuropathy were not found. The pathological findings may represent either an unusual form of chronic phenytoin toxicity or a previously undescribed primary degenerative brain syndrome.
我们报告一例80岁男性病例，该患者66岁时患癫痫，接受苯妥英长期治疗。在其生命的最后3年，出现多种神经功能缺损，包括双侧舞蹈症、共济失调步态、感觉神经病变及进行性痴呆。死于肺炎后，对患者脑部进行尸检，最显著的发现是双侧丘脑底核神经元选择性缺失以及小脑浦肯野细胞丢失。这种损伤模式符合中毒过程，与先前已知的与运动障碍或痴呆或两者相关的病理综合征不符。已表明苯妥英在一些患者中可引起舞蹈样动作、周围神经病变及认知功能下降，但这些变化的病理基础尚未阐明。患者的舞蹈症很可能是丘脑底核神经元丢失的结果，但未找到其痴呆和神经病变的病因。病理发现可能代表慢性苯妥英中毒的一种不寻常形式，或一种先前未描述的原发性退行性脑综合征。
