Price David J, Ravindranath Thyyar, Kaler Stephen G
New York Medical College, Valhalla, NY, USA.
Int J Pediatr Otorhinolaryngol. 2007 Jul;71(7):1145-8. doi: 10.1016/j.ijporl.2007.02.021. Epub 2007 May 4.
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 low 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.
小儿颈部肿块应引起对某些结缔组织遗传性疾病的高度怀疑。为强调这一点，我们报告了3例患有门克斯病（一种铜转运的遗传性疾病）的婴儿，他们在7至17个月大时出现了单侧颈部大肿块。所有病例在影像学检查中均被诊断为颈内静脉扩张。这些肿块在哭闹或用力时会增大，在这些患者中，分别已保持临床良性状态20个月、17个月和2个月。虽然门克斯病中经常报道动脉迂曲和动脉瘤，但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活性降低，导致构成颈动脉鞘的颈深筋膜抗张强度降低，可能使这些个体易患颈内静脉扩张。由于早期诊断和治疗的进展，门克斯病婴儿的生存率和神经功能结局有所改善，这可能与识别该疾病的新临床特征（如颈内静脉扩张）有关。
