Scott Janet T, Scally Caroline, Peden Norman, Macleod Malcolm
Department of General Medicine, Borders General Hospital, Melrose, UK.
BMJ Case Rep. 2012 Jun 12;2012:bcr0720114476. doi: 10.1136/bcr.07.2011.4476.
A 51-year-old man presented with a focal epileptic, fluctuating encephalopathy. Antibodies to voltage-gated potassium channels (VGKC-Abs) were detected in his serum. Several features of this case were different from those previously reported in VGKC-Ab-associated encephalitis, illustrating that it may have a broader phenotype than previously documented. These features were: excess hepatic iron deposits without cirrhosis, reduced consciousness and fluctuating neurological signs. Previous history included personality change, depression, type 2 diabetes mellitus, pupil sparing third nerve palsy and epilepsy secondary to a head injury. He had never drunk alcohol and had recovered from a similar episode 4 years previously. Both episodes resolved after approximately 2 months. The cerebrospinal fluid had a raised protein content but no organisms. The patient was heterozygous for C282Y and negative for H63D mutations excluding classical idiopathic haemochromatosis. He recovered with supportive care to his premorbid level of health.
一名51岁男性出现局灶性癫痫发作、波动性脑病。其血清中检测到电压门控钾通道抗体(VGKC-Abs)。该病例的几个特征与先前报道的VGKC-Ab相关脑炎不同,说明其可能具有比先前记录更广泛的表型。这些特征包括:无肝硬化的肝脏铁沉积过多、意识减退和波动性神经体征。既往史包括人格改变、抑郁症、2型糖尿病、动眼神经麻痹但瞳孔未受累以及头部受伤继发癫痫。他从未饮酒,4年前曾有过类似发作并已康复。两次发作均在约2个月后缓解。脑脊液蛋白含量升高但未检出病原体。患者C282Y基因杂合,H63D突变阴性,排除经典的特发性血色素沉着症。他在支持治疗下恢复到病前健康水平。