Jafri Sidra Kaleem, Kumar Raman, Lashari Shazia Kulsoom, Chand Prem
Aga Khan University Hospital, Karachi, Pakistan.
Aga Khan University Hospital, Karachi.
J Pak Med Assoc. 2017 Oct;67(10):1609-1611.
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurological examination revealed a central hypotonia with marked decrease in muscle power with normal deep tendon reflexes. The serum ceruloplasmin level and serum copper level were decreased. Ultrasound KUB showed Hutch diverticulum along left ureteric orifice. Magnetic resonance imaging (MRI) carried out at five months of age showed frontal cortical atrophy. His EEG was consistent with hypsarrythmia pattern. Patients with classic MD usually exhibit a severe neurodegenerative course, with poor long term outcome and death before the third year of life.
门克斯病（MD）（在线人类孟德尔遗传数据库编号：309400）也被称为卷发疾病、毛发硫营养不良症和钢发症。一名7个月大的男婴于2016年6月前来我院门诊，有发育迟缓及癫痫病史。癫痫发作始于3个月大时，并逐渐加重为全身性伸肌痉挛。体格检查显示头发稀疏且卷曲。神经系统检查发现中枢性肌张力减退，肌力明显下降，而深部腱反射正常。血清铜蓝蛋白水平和血清铜水平降低。腹部平片超声显示左侧输尿管口处有哈钦森憩室。5个月大时进行的磁共振成像（MRI）显示额叶皮质萎缩。他的脑电图符合高峰节律紊乱模式。典型MD患者通常表现出严重的神经退行性病程，长期预后较差，常在3岁前死亡。
