Menkes病三例临床及实验室特点

Clinical and laboratory features of the Menkes disease

目的探讨Menkes病的临床和实验室特点。方法对3例确诊为Menkes病总儿的临床、实验室检查及影像学资料进行回顾性分析。结果3例患儿均婴儿早期生后3～6个月起病，有皮肤白、头发黄短、稀疏卷曲、眼距宽和眼裂小等特殊面容及毛发改变，均表现智能发育落后，3例患儿的头发在光镜下观察均有扭曲、串珠样改变；血浆铜蓝蛋白分别为32．3mg／L、72．5mg／L和60．7mg／L，均明显减低；头颅影像学示弥漫性脑萎缩，脑白质髓鞘化落后，脑血管走行紊乱扭曲；例1和例2基因学检查示X染色体上14号外显子分别缺失或无义突变。结论Menkes病为遗传性的铜代谢障碍性疾病，以进行性加重的神经损害为主要表现，有特殊面容和毛发改变，以及脑萎缩和脑血管的形态改变。

Objective To study the clinical and laboratory features of the patients with Menkes disease. Method Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed. Result All the three cases were male infants. Their clinical manifestations began at the 3, 5 and 6 months after birth. They all had light complexion, sparse fuzzy wooly hair. The main clinical manifestation was severe mental retardation. The first and the third case also had focal clonus seizures. The second case had feeding difficulty after birth. Their hair showed pill torti and trichorrhexis nodosa microscopically. Their ceruloplasmin in plasma were 32. 3 mg/L, 72. 5 mg/L and 60. 7 mg/L, which were significantly lower as compared with the normal values. Their neuroimaging findings were cortical atrophy, delayed myelination of the white matter and tortuosity of the intracranial vessels. The gene examination of the first and the second case showed deletion and nonsense mutation on exon 14 respectively. Conclusion Menkes disease is an X-linked recessive disorder characterized by a copper-transporting ATPase defect. The main clinical manifestation is progressive nerve damage. Patients with the disease have special face and hair abnormality, and have morphological changes of brain blood vessels and cerebral atrophy.