Bindu Parayil Sankaran, Taly Arun B, Kothari Sonam, Christopher Rita, Gayathri Narayanappa, Sinha Sanjib, Nagappa Madhu, Bhatt Maya, Bharath Rose Dawn
Department of Neurology, National Institute of Mental Health And Neurosciences, Bangalore, India.
Brain Dev. 2013 May;35(5):398-405. doi: 10.1016/j.braindev.2012.07.016. Epub 2012 Aug 24.
Epilepsy is an early and important feature in Menkes disease (MD), an X-linked recessive neurodegenerative disorder of childhood with defect in copper metabolism. There are only few reports on the electro-clinical and magnetic resonance imaging correlates in Menkes disease. The current study describes the electro-clinical features in MD in relation with the structural findings on MRI.
Six patients from five families were evaluated between 2005 and 2011. Their diagnosis was based on the characteristic morphological features, microscopic evidence of pili torti and low copper and ceruloplasmin levels. All the patients underwent MRI and EEG as part of the evaluation.
All patients had classical form of MD with typical morphological features. All but one patient had refractory seizures. Seizure types included multifocal clonic seizures (n=3), myoclonic jerks (n=4) and tonic spasms (n=1). EEG was markedly abnormal in all except in the patient without clinical seizures. While focal epileptiform discharges predominated before six months of age modified hypsarrhythmia was characteristically noted thereafter. MR Imaging revealed abnormalities in all patients, with cerebral atrophy and delayed myelination being the most common observations. Other features noted were subdural effusion (n=3), leukoencephalopathy (n=3) and basal ganglia signal changes (n=1). Follow up imaging in three patients showed resolution of white matter signal intensity changes.
Electro-clinical features in Menkes disease are age dependent and evolve sequentially. White matter changes coincided with acute exacerbation of seizures. There was fair correlation between the electro-clinical features and structural findings on MRI.
癫痫是门克斯病（MD）的一个早期且重要的特征，MD是一种X连锁隐性遗传性儿童神经退行性疾病，存在铜代谢缺陷。关于门克斯病的电临床及磁共振成像相关性的报道较少。本研究描述了MD的电临床特征及其与MRI结构表现的关系。
2005年至2011年间对来自五个家庭的六名患者进行了评估。他们的诊断基于特征性形态学特征、扭曲发的微观证据以及低铜和低铜蓝蛋白水平。作为评估的一部分，所有患者均接受了MRI和脑电图检查。
所有患者均患有具有典型形态学特征的经典型MD。除一名患者外，所有患者均有难治性癫痫发作。癫痫发作类型包括多灶性阵挛性发作（n = 3）、肌阵挛抽搐（n = 4）和强直性痉挛（n = 1）。除无临床癫痫发作的患者外，所有患者的脑电图均明显异常。6个月龄前以局灶性癫痫样放电为主，此后特征性地出现变异型高度节律失调。MRI显示所有患者均有异常，最常见的表现为脑萎缩和髓鞘形成延迟。其他表现包括硬膜下积液（n = 3）、白质脑病（n = 3）和基底节信号改变（n = 1）。三名患者的随访成像显示白质信号强度改变有所缓解。
门克斯病的电临床特征与年龄相关且呈顺序演变。白质改变与癫痫发作的急性加重同时出现。电临床特征与MRI结构表现之间存在较好的相关性。
