Internal jugular phlebectasia in Menkes disease

Abstract

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.

A rare internal jugular vein phlebectasia: Review of the literature

“…[17] In Menkes disease, deficiencies in copper-dependent enzyme lysyl oxidase is most likely responsible for the phlebectasia found in these patients. [16] Neither such a clinic and complication nor a progression was observed in our patient within 12 months of follow-up.…”

“…[4] The association between IJV phlebectasia and Menkes disease has also been suggested. [16] Menkes disease, known as the kinky hair disease, is a rare genetic neurodegenerative disorder of copper metabolism caused by mutations. [17] In Menkes disease, deficiencies in copper-dependent enzyme lysyl oxidase is most likely responsible for the phlebectasia found in these patients.…”

Left Jugular Phlebectasia in an Elderly Patient

“…1 Congenital abnormalities of the venous walls and carotid sheaths are considered to be the causes of this disease; therefore, its development in childhood is described in most case reports. 1,2 We herein report left jugular phlebectasia without neck swelling in an elderly patient.…”

“…1,2 It frequently presents as transient soft bulges in the lateral neck attributable to increased intrathoracic pressure with breath-holding. 1,2 It is also known that jugular phlebectasia develops more frequently in the right jugular vein because this vessel is more subject to the effects of increased intrathoracic pressure than the left jugular vein. 1 Congenital abnormalities of the venous walls and carotid sheaths are considered to be the causes of this disease; therefore, its development in childhood is described in most case reports.…”

“…Because jugular phlebectasia frequently develops in childhood and on the right side, congenital thinning of the carotid sheaths and the presence of an anatomic venous perfusion impairment have been suggested. 2,3 Although rare, there are reports of this disease in adults. 1,4 Acquired factors such as inflammation, injury, and the state of Valsalva strain are considered to contribute to its development in adults.…”