Jain Puneet, Kannan Lakshminarayanan, Chakrabarty Biswaroop, Kumar Atin, Gupta Neerja, Kabra Madhulika, Gulati Sheffali
Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
Department of Radio-Diagnosis, Jai Prakash Narayan Apex Trauma Centre, New Delhi, India.
J Pediatr Neurosci. 2014 Jan;9(1):11-6. doi: 10.4103/1817-1745.131471.
Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities.
We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute.
SETTING/DESIGN: The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported.
Descriptive statistics were used.
During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels.
Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.
门克斯病是一种X连锁多系统疾病，其特征为脑和小脑神经退行性变早发、皮肤白皙、毛发色素减退且稀疏以及结缔组织异常。
我们旨在评估在我院就诊的门克斯病患儿的临床、电生理和放射学特征。
设置/设计：回顾性分析了2010年1月至2012年12月期间在印度北部一家三级医疗和转诊医院的儿科神经病房住院或在儿科神经专科门诊就诊的被诊断为门克斯病患儿的病历。随后对每个病例的临床数据进行了总结和报告。
采用描述性统计。
在研究期间，共诊治1174名儿童。其中，6例根据临床表型、低血清铜和铜蓝蛋白以及支持性神经影像学检查被诊断为门克斯病。所有患儿均为男性，发病年龄均在3个月以内，4例在新生儿期发病。全面发育迟缓及难治性癫痫是主要临床症状。2例患儿有症状性韦斯特综合征。其他癫痫发作形式包括强直阵挛发作（4例）、肌阵挛发作（2例）和强直发作（1例）。脑电图异常包括高峰节律紊乱（2例）和多灶性癫痫样放电（3例）。显著的放射学特征包括白质改变、颞叶异常、全脑萎缩、硬膜下积液和脑血迂曲。
对于难治性早发性癫痫病例，尤其是存在细微临床线索时，应怀疑门克斯病。神经影像学检查结果可能进一步支持诊断。
