Wichajarn Khunton, Munkong Waranon
J Med Assoc Thai. 2016 Aug;99 Suppl 5:S177-81.
Menkes disease is a disorder of copper transportation that results in multi-systems involvement including neurological deterioration, seizure, dysmorphic facies and kinky hair. The authors report a case of Menkes disease that was complicated with bilateral iliac artery aneurysms.
A 6-month-old Thai male infant presented with seizure, global delayed development, hypotonia and sparse, short, lightly pigmented and kinky hair. Light microscopic hair analysis showed pili torti. His serum copper and ceruloplasmin levels were low and were compatible with Menkes disease. Radiological finding from magnetic resonance angiography (MRA) revealed irregular tortuosity of abdominal aorta, a large right internal iliac artery aneurysm and a small left common iliac artery aneurysm. Genetic counseling and supportive treatment were provided for this patient.
Iliac aneurysms are a serious complication of patients with Menkes disease. Careful investigation with computed tomographic angiography (CTA) or MRA is helpful in those patients.
门克斯病是一种铜转运障碍疾病，可导致多系统受累，包括神经功能恶化、癫痫发作、面部畸形和卷发。作者报告了一例合并双侧髂动脉瘤的门克斯病病例。
一名6个月大的泰国男婴出现癫痫发作、全面发育迟缓、肌张力低下以及头发稀疏、短、色素浅和卷曲。光学显微镜下毛发分析显示为扭曲发。他的血清铜和铜蓝蛋白水平较低，符合门克斯病。磁共振血管造影（MRA）的影像学检查发现腹主动脉不规则迂曲、右侧髂内动脉大动脉瘤和左侧髂总动脉小动脉瘤。为该患者提供了遗传咨询和支持性治疗。
髂动脉瘤是门克斯病患者的严重并发症。对这些患者进行计算机断层血管造影（CTA）或MRA的仔细检查是有帮助的。
