摘要
目的探讨14号环状染色体综合征的临床、脑电图(EEG)特征及治疗,提高临床对本病的早期识别及准确诊断。方法分析2012年8月至2018年8月北京大学第一医院儿科神经门诊及病房收治的4例经遗传学确诊的14号环状染色体综合征患儿的临床及EEG特征,并对治疗及预后进行随访。结果4例中男、女各2例,均存在发育落后。均有异常的面部特征,如眼距宽、鼻梁低及小头畸形。均有癫痫发作,起病年龄为8个月~1岁,发作类型包括局灶性发作、强直发作、全面强直-阵挛发作。EEG监测年龄为9个月~4岁4个月,图形特征为背景活动慢化,发作间期表现为一侧或双侧前头部、后头部或弥散性慢波发放,伴或不伴多灶性癫痫样放电的插入。1例头颅磁共振成像(MRI)提示有非特异性异常,3例头颅MRI正常。末次随访时年龄为1岁8个月~7岁1个月,随访时间9个月~6年5个月。癫痫治疗主要为丙戊酸联合其他抗癫痫药物,4例发作次数减少,均未完全控制。末次随访时运动、语言较同龄儿童均落后:1例能独立行走,3例独走不稳;2例能说2、3个字的简单词汇,1例仅能有意识叫"爸爸、妈妈",1例语言无发育。结论14号环状染色体综合征是一种罕见的染色体异常引起的疾病,主要临床表现有特殊面容、小头畸形、癫痫、发育落后,尤其是语言和认知发育落后。癫痫发作类型既有局灶性又有全面性发作,EEG特点为非特异性,主要为背景活动变慢,游走性慢波混合多灶性放电。本病的癫痫常为难治性,丙戊酸联合其他抗癫痫药可减少癫痫发作。癫痫发作难以控制会进一步影响发育预后。
Objective To investigate the clinical and electroencephalogram(EEG)characteristics and treatment of ring chromosome 14 syndrome,and to improve its early recognition and accurate diagnosis.Methods The cli-nical and EEG characteristics of 4 patients with ring chromosome 14 syndrome confirmed by genetic diagnosis were analyzed in the neurology outpatient department and ward of pediatrics in Peking University First Hospital from August 2012 to August 2018.The treatment and prognosis of the 4 patients were followed up.Results Of the 4 patients,there were 2 males and 2 females.All the patients had developmental delay,abnormal facial features such as wide eye spacing,low nasal bridge and microcephaly.Seizures occurred in all the patients with varying onset ages from 8 months to 1 year.Seizure types included focal seizure,tonic seizure and generalized tonic-clonic seizure.EEG monitoring ages varied from 9 months to 4 years and 4 months.The characteristic EEG pattern manifested as slow activity of background,unilateral or bilateral anterior,posterior or diffuse slow activity,with or without interposed multifocal epileptiform discharges.Cranial magnetic resonance imaging(MRI)showed non-specific abnormality in 1 patient and normal in 3 patients.The ages at the last follow-up ranged from 1 year and 8 months to 7 years and 1 month with intervals from 9 months to 6 years and 5 months.Valproic acid combined with other antiepileptic drugs was used to treat seizures.Seizure reduction instead of control was observed in all the 4 cases.At the last follow-up,the development of movement and language were all delayed in the 4 patients.One case could walk independently,three could walk unsteadily alone;two could speak 2-3 simple words,one could call only"baba,mama",and one had no language development.Conclusions The ring chromosome 14 syndrome is a rare disease caused by chromosome abnormality.Its main clinical manifestations included facial abnormalities,microcephaly,epilepsy,developmental delay especially for language and cognitive d
作者
张真
薛姣
龚潘
吴晔
张月华
杨志仙
Zhang Zhen;Xue Jiao;Gong Pan;Wu Ye;Zhang Yuehua;Yang Zhixian(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Department of Pediatrics,Cangzhou Central Hospital,Cangzhou 061001,Hebei Province,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2019年第20期1555-1559,共5页
Chinese Journal of Applied Clinical Pediatrics
关键词
14号环状染色体综合征
诊断
癫痫
脑电图
Ring chromosome 14 syndrome
Diagnose
Epilepsy
Electroencephalogram
