目的 探讨良性家族性婴儿癫痫(BFIE)的临床特点.方法 回顾性分析1例PRRT2基因突变和双侧额区放电的BFIE患者的临床资料,并进行文献复习.结果 BFIE主要临床表现为局灶性癫痫发作,PRRT2为主要致病基因.发作间歇期EEG多无异常,局灶性放电部位多为额区.本病预后良好,多数抗癫痫药物对本病有效.结论 婴儿期以局灶性癫痫起病,如丛集性发作,且智力、运动发育正常,需结合基因和EEG检查,考虑BFIE可能.

本文报道2例一氧化碳中毒迟发性脑病患者的临床资料,并结合文献分析其临床表现、MRI及脑电图特点.

目的 探讨线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的临床症状、EEG、影像学及肌肉病理特点,以提高对其认识及诊断的正确率.方法 回顾性分析6例基因确诊的MELAS综合征患者的临床资料,分析其临床表现、EEG、影像学、肌肉病理特点.结果 6例患者中男性4例,女性2例,年龄最大者43岁,最小者4岁,平均起病年龄(15.00±13.10)岁.临床主要表现为痫性发作(100％)、卒中样发作(50.0％)、形体矮小(50.0％)、认知功能下降(66.7％)、共济失调(33.3％)、血乳酸增高(83.3％)等;6例EEG检查示4例顶、枕、颞区局灶性癫痫样放电,2例广泛性δ波,其中1例伴弥漫性1.5～2.0 Hz多棘慢、慢棘慢波发放.影像学检查:头颅MRI示4例顶、枕、颞区呈长T1、长T2改变,DWI高信号改变伴脑室扩大、脑沟裂增宽,2例未见明显异常;1例磁共振波谱分析(MRS)示左枕区乳酸峰升高,N-乙酰天门冬氨酸峰减低.肌活检:5例见蓬毛样红纤维,5例CCO染色见强烈反应性血管增生现象(SSVs);3例SDH染色见SSVs.结论 MELAS综合征的临床多表现为癫痫、卒中、发育迟缓、智能减低等.EEG多表现为背景异常、局灶性放电,发作期可见多种发作图形,且局灶性放电部位多与影像学病灶一致.头颅MRI多显示病灶位于大脑半球后部,顶、枕、颞多见,不按脑血管分布.MRS可出现N-乙酰天门冬氨酸峰下降和乳酸峰升高.肌肉病理多见蓬毛样红纤维及SSVs.

Purpose:To prospectively investigate the incidence and prevalence of Wilson disease (WD) in Chinese Han population in Anhui Province, to analyze the genetic mutations in individuals with WD, and to provide basic epidemiological data regarding WD in this Chinese Han population.Methods:Between November 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-F ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. The participants were from Anhui Province's Hanshan County, Jinzhai County, and Lixin County. The clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. Individuals with positive K-F rings and clinical manifestations indicative of WD underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of WD.Results:Of 153,370 individuals investigated in this study, nine were diagnosed with WD. In these WD individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. Of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. The other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for WD. The incidence and prevalence of WD in this population were approximately 1.96/100,000 and 5.87/100,000 respectively.Conclusions:The Chinese Han population had a higher average prevalence of WD than the populations of the United States or Europe.

OBJECTIVE:To identify the incidence and morbidity rates of hepatolenticular degeneration (HLD) at Hanshan County, Anhui Province.METHODS:According to the principles of age stratification, cluster and random sampling, a total of 112 810 subjects were screened by cornea slit-lamp examination during the period of November 2008 to October 2009. The subjects were from recruited from schools, factories, communities, institutions and villages at Hanshan County. And they belonged to the age group of 7 - 75 years. At the same time, each subject was evaluated by the clinical examination with regards to the presence of such clinical manifestations as brain, liver, kidney, skin and other organ damage. And the examinations of copper biochemistry and abdominal ultrasound were performed for those subjects with K-F rings or their clinical manifestations suspicious of HLD. In order to confirm or exclude HLD, the penicillamine challenge test (PCT) was performed if necessary.RESULTS:Seven HLD patients had a definite diagnosis of HLD. There were classical Wilson type (n = 1), pseudosclerosis type (n = 1), mental disorder type (n = 1), liver type (n = 1) and presymptomatic (n = 3). The incidence rate was 2.66/100 000 and the prevalence rate 6.21/100 000 at Hanshan County, Anhui Province.CONCLUSION:HLD is a common disease. In order to avoid a misdiagnosis and prevent an incorrect treatment, physicians should pay more attention to this curable disease and try their best to achieve early detection, early diagnosis and early treatment.