摘要： 目的 研究以癫痫发作为首发表现的Menkes 病临床特点，提高对继发性癫痫病因诊断的认识。方法 回顾分析5 例Menkes 病患儿的临床、实验室和影像学特点。结果 5 例患儿均为男婴，其中2 例为兄弟，发病年龄1 ~ 5 个月，表现为强直发作（3 例）或局灶性阵挛发作（2 例），后者发作频繁且呈进行性加重。其中，4 例脑电图背景波异常、3 例发作间期以枕区为主的局灶性或多灶性样放电、2 例发作期性放电；5 例患儿均伴明显发育迟滞，皮肤白皙、毛发卷曲；4 例血清铜和铜蓝蛋白降低明确诊断为Menkes病、1 例因兄长已先证诊断结合自身典型表现临床诊断为Menkes病；3 例MRI均可见广泛脑萎缩和对称性脑软化灶、1 例MRA 可见颅内大动脉扭曲和末端变细。分别接受苯巴比妥（1 例）、托吡酯（2 例）或托吡酯+ 左乙拉西坦+ 氯硝安定联合治疗（1 例）。1 例住院24 h 死于呼吸衰竭，4 例出院后随访1 ~ 9 个月，3 例死亡，1 例随访4 个月后转为频繁痉挛发作伴发育迟缓，发作间期脑电图呈现高峰失律。结论 Menkes 病继发癫痫多于婴儿期发病，早期以强直发作或局灶阵挛发作为主要表现伴发作间期样放电，抗癫痫药物难以控制发作，患儿预后不良。

关键词: 癫痫, Menkes卷发综合征, 铜, 血浆铜蓝蛋白, 脑电描记术, 婴儿, 新生, 疾病

Abstract: Objective  To study the clinical features of patients with Menkes' disease (MD) that initiate from seizures, and to reinforce the knowledge of etiological diagnosis of secondary epilepsy.  Methods  The clinical and laboratory features of 5 MD patients who were admitted from December 1992 to March 2014 were retrospectively analyzed.  Results  All cases were male infants including two brothers, and the age of onset was 1-5 months after birth. Their clinical manifestations started from tonic (N = 3) and focal clonic (N = 2) seizures. The focal clonic seizures became more frequent and progressively worsened. Four cases showed abnormal background EEG rhythm; 3 cases revealed interictal focal or multifocal epileptiform discharges over occipital region predominantly; 2 cases revealed epileptic discharge in fit period EEG. All the cases manifested severe mental retardation accompanied with light complexion and curly hair. Low serum copper and ceruloplasmin levels were found in 4 cases and lead to the diagnosis of MD. The exceptional one was made clinical diagnosis of MD due to his typical manifestation and the diagnosis of his elder brother. Three cases received MRI examination, which showed extensive cerebral atrophy and symmetric encephalomalacia foci. One case revealed tortuosity of main artery and diminution of distal artery by MRA. One case was treated with phenobarbital, 2 cases with topiramate, one case with topiramate and levetiracetam and clonazepam. One case died of respiratory failure at 24 h after admission. The other 4 cases were followed up for 1-9 months after being discharged, 3 of whom died, and the left one converted to intractable infantile spasms and severe mental retardation, with interictal EEG changing to hypsarrhythmia.  Conclusions  The onset of patients with epilepsy secondary to MD often occurs in early infancy, manifesting tonic and focal clonic seizures predominantly with interictal epileptiform discharges over the posterior region in the early stage. Epilepsy secondary to MD shows strong uncontrollability by antiepileptic drugs and poor prognosis.

Key words: Epilepsy, Menkes kinky hair syndrome, Copper, Ceruloplasmin, Electroencephalography, Infant, newborn, diseases