CTICasesMultiple visceral aneurysms in Menkes syndrome
Imaging findings
CT angiogram of a 2-month-old male with Menkes syndrome demonstrates multiple large aneurysms and tortuous beading of the medium-caliber visceral arteries, including the celiac trunk, superior mesenteric artery (SMA), replaced right hepatic artery, and bilateral renal arteries.
Key takeaways
Menkes (kinky hair) syndrome is a rare X-linked recessive disorder of copper transport. Copper deficiency leads to dysfunctional lysyl oxidase activity, preventing normal collagen and elastin cross-linking, which causes widespread arterial tortuosity, fragmentation, and aneurysm formation.
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