Brachial artery aneurysms in Menkes disease

Godwin, Sarah C.; Shawker, Thomas H.; Chang, Benjamin; Kaler, Stephen G.

doi:10.1016/j.jpeds.2006.05.041

Cited by 44 publications

(25 citation statements)

References 15 publications

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“…Moreover, molecular studies of this gene have been previously described in patients with isolated spontaneous arterial dissection but no mutation was found [11]. Finally, brachial aneurisms have been described in Menkes disease (MIM 309400), caused by mutations in ATP7A gene, a Cu 2+ transporter [12]; usually characterized by diffused vascular tortuosity, patients display kinky hair, hypotonia, delayed motor development, seizures and hypomelanic skin. This last diagnosis was rejected too in our patients.…”

Section: Discussionmentioning

confidence: 99%

Management of brachial artery aneurisms in infants

et al. 2008

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Brachial artery aneurisms in children under 1 year of age are very rare. The main risk is distal ischaemic complication. We report four infants suffering from brachial artery aneurism of unknown origin. In all cases we used Doppler ultrasonography to validate the clinical diagnosis. Pre-operative vascular check-up was negative for other aneurismal location. Surgical excision with direct end-to-end anastomosis was possible in one patient; the others required interposition of an autologous venous graft. At discharge, patients were given oral aspirin for a few weeks. Histological examination revealed one pseudoaneurism and three true aneurisms. There were no complications either postoperatively or at 18 months follow-up. Arterial ligation might be indicated in only two situations: aneurism distal to profunda brachii artery, or chronic wall thrombus completely occluding (but distal perfusion through a neovascularization must be assessed first on angiography). Surgical excision with arterial reconstruction is the standard treatment. Endovascular treatment is not suitable because such a procedure in an infant would generate excessive radiation exposure, and a risk of stent migration with limb growth. In the case of an initial isolated and idiopathic presentation, or of false aneurism, clinical follow-up at 1 year is sufficient. In the case of secondary lesion, multiple initial presentation or relapse, life-long follow-up with repeated corporal imaging should be performed.

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Section: Discussionmentioning

confidence: 99%

Management of brachial artery aneurisms in infants

et al. 2008

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“…The pleiotropic phenotype in Menkes disease resulting from the lack of activity of several cuproenzymes frequently includes arterial tortuosity, while true arterial aneurysms have been rarely reported [7][8][9] in newborns.…”

Section: Introductionmentioning

confidence: 99%

Histopathology of an Iliac Aneurysm in a Case of Menkes Disease

et al. 2010

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In Menkes disease, arterial tortuosity is frequent, whereas true aneurysms are rare. Here, we report aneurysmal pathology occurring in an infant with Menkes disease. An iliac aneurysm was diagnosed in a 2-month-old boy and attributed to Menkes syndrome on the basis of plasma copper deficiency. Samples of the aneurysmal wall were taken during surgery for histopathological analysis. As in other forms of aneurysm, the arterial wall was characterized by smooth muscle cell (SMC) disappearance, linked to SMC apoptosis and oxidative stress, areas of mucoid degeneration, and extracellular matrix breakdown, including disappearance of elastic fibers and presence of abnormal collagen.

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“…Some other clinical features are associated with deficiencies of specific copper enzymes [5]. For example, connective tissue abnormalities including skin and joint laxity, bladder diverticula, gastric polyps, vascular tortuosity, and brachial artery aneurysms are all ascribed to deficiency of the copper enzyme lysyl oxidase [6][7][8]. Lysyl oxidase normally plays a Summary Pediatric neck masses should trigger a high index of suspicion for certain genetic disorders of connective tissue.…”

Section: Introductionmentioning

confidence: 99%

Internal jugular phlebectasia in Menkes disease

Price¹,

Ravindranath²,

Kaler³

2007

International Journal of Pediatric Otorhinolaryngology

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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.

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Brachial artery aneurysms in Menkes disease

Cited by 44 publications

References 15 publications

Management of brachial artery aneurisms in infants

Management of brachial artery aneurisms in infants

Histopathology of an Iliac Aneurysm in a Case of Menkes Disease

Internal jugular phlebectasia in Menkes disease

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