ArticleCureus2024
Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Menkes disease is an X-linked recessive genetically inherited metabolic disease caused by an ATP7A gene abnormality that gives rise to impaired copper absorption. Copper deficiency causes symptoms such as characteristic abnormalities in the hair and vascular disorders. Brain MRI findings include a high-signal intensity in the temporal lobe white matter on T2-weighted images and delayed myelination. Intracranial arterial tortuosity seen on brain MR angiography (MRA) is one of the characteristic features of this disease. We report two cases with similar MRI findings visualized as flow voids in tortuous arteries near the central sulcus. The findings from these cases indicate that, on MRI in children, attention must be paid to intracranial arterial flow voids in patients who have not undergone MRA, particularly when Menkes disease is not suspected based on the patient's clinical course. Moreover, the findings in these cases suggest Menkes disease, indicating that they may assist in establishing the diagnosis.
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