Wu K H, Chi C S, Chen C W
Department of Paediatrics, Veterans General Hospital-Taichung, Taiwan, R.O.C.
Zhonghua Yi Xue Za Zhi (Taipei). 1990 Nov;46(5):299-305.
Menkes' kinky hair disease (trichopoliodystrophy) is a rare inherited X-linked recessive disease with an incidence of about 1:35,000, and is rare reported previously in Taiwan. We present 2 cases with typical features including sparse, coarse and stubby, kinky hair, depigmented skin, pudgy face, arrow-shaped upper lip, hypotonia, Babinski signs bilaterally, profound psychomotor retardation with disability of head control or rolling over, and poorly controlled myoclonic jerks. Both were male infants with a family history of male relatives died in early childhood. Their hairs showed pili torti and trichorrhexis nodosa microscopically. Serum levels of copper were 14 ug/dl and 20 ug/dl. Ceruloplasmin levels were 10.4 mg/dl and less than 7 mg/dl. Their EEG showed abnormal generalized brain polyspike waves. Brain CT scan showed generalized brain atrophy, and chronic subdural hematoma in case 1. Bilateral urinary bladder diverticula and spurs over the distal ends of the femoral diaphysis were found in case 1. Normal urinary bladder was found in case 2 initially, then diverticula developed one year later. They are currently on anticonvulsants (Rivotril) therapy. Repeated attacks of respiratory infection, myoclonic seizure, hypotonia, and static neurologic developmental status are noted.
门克斯卷发综合征（毛发硫营养不良）是一种罕见的X连锁隐性遗传病，发病率约为1:35000，此前在台湾鲜有报道。我们报告2例具有典型特征的病例，包括头发稀疏、粗糙、短粗且卷曲，皮肤色素脱失，脸圆胖，上唇呈箭形，肌张力低下，双侧巴氏征阳性，严重精神运动发育迟缓，无法控制头部或翻身，肌阵挛性抽搐难以控制。两例均为男婴，有男性亲属在幼儿期死亡的家族史。他们的毛发在显微镜下显示扭曲发和结节性脆发。血清铜水平分别为14μg/dl和20μg/dl。铜蓝蛋白水平分别为10.4mg/dl和低于7mg/dl。他们的脑电图显示广泛的脑多棘波异常。脑部CT扫描显示广泛性脑萎缩，病例1还伴有慢性硬膜下血肿。病例1发现双侧膀胱憩室和股骨干远端骨刺。病例2最初膀胱正常，1年后出现憩室。他们目前正在接受抗惊厥药物（氯硝西泮）治疗。有反复的呼吸道感染、肌阵挛发作、肌张力低下和静态神经发育状态。
