Iliac Artery Aneurysms in Menkes Disease: A Case Report
Khunton Wichajarn MD*, Waranon Munkong MD**
Affiliation : * Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand ** Department of Radiology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
Background : 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.
Case Report : 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.
Conclusion : 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.
Keywords : Menkes disease, Iliac aneurysm, ATP7A, Pili torti
