We report serial imaging findings of a case of Menkes' disease from clinical onset, when neuroimaging was normal, to late stages, when characteristic findings were clearly visible. Low ceruloplasmin and copper serum levels together with copper accumulation in cutaneous fibroblast cultures, confirmed the diagnosis.
CT and MRI revealed bilateral areas of parenchymal damage, progressive cerebral atrophy and bilateral subdural collections.
In addition, FIRMS sequence showed delayed myelinization while MRA confirmed characteristic tortuosity of intracranial vessels.
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