Internal jugular phlebectasia in Menkes disease
Internal jugular phlebectasia in Menkes disease
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DOI：
10.1016/j.ijporl.2007.02.021
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发表时间：
2007-07-01
影响因子：
1.5
通讯作者：
Kaler, Stephen G.
中科院分区：
文献类型：
--
作者：
Price, David J.;Ravindranath, Thyyar;Kaler, Stephen G.
小儿颈部肿块应该会引发高潮。对某些结缔组织遗传性疾病的怀疑指数。为了强调这一点，我们报告了三名患有门克斯病（一种铜转运遗传性疾病）的婴儿，他们在 7 至 17 个月大时出现了巨大的单侧颈部肿块。所有这些都在影像学研究中被鉴定为颈内静脉扩张。这些患者的肿块在哭泣或用力时会增大，但在 20、17 和 2 个月内均保持临床良性。虽然门克斯病经常报道动脉迂曲和动脉瘤，但静脉静脉扩张却很少被描述。我们推测，铜依赖性酶赖氨酰氧化酶的两种活性导致构成颈动脉鞘的颈深筋膜的拉伸强度降低，可能导致这些个体易患颈内静脉扩张。由于早期诊断和治疗的进步，门克斯病婴儿的生存率和神经系统结果得到改善，这可能与认识到这种疾病的新临床特征（例如颈内静脉扩张）有关。由爱思唯尔出版。爱尔兰有限公司
Pediatric neck masses should trigger a high. index of suspicion for certain genetic disorders of connective tissue. To highlight this, we report on three infants with Menkes disease, an inherited disorder of copper transport, who developed large, unilateral neck masses at between 7 and 17 months of age. All were identified in imaging studies as internal jugular phlebectasia. The masses, which enlarged on crying or exertion, have remained clinically benign in these patients for 20, 17, and 2 months, respectively. While arterial tortuosity and aneurysms have been reported often in Menkes disease, venous phlebectasia has rarely been described. We speculate that tow activity of the copper-dependent enzyme, lysyl oxidase, leading to reduced tensile-strength in the deep cervical fascia comprising the carotid sheath may predispose to internal jugular phlebectasia in these individuals. Improved survival and neurological outcomes in infants with Menkes disease due to advances in early diagnosis and treatment may be associated with recognition of novel clinical stigmata of this condition such as internal jugular phlebectasia. Published by Elsevier. Ireland Ltd.