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Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain.
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Abstract
We present two patients with hypocaeruloplasminaemia and a heteroallelic caeruloplasmin gene mutation (HypoCPGM). These patients had diabetes mellitus and tremor of the hands, respectively. T2-weighted fast spin-echo MRI showed mildly reduced intensity of the putamen, much more marked on echo-planar imaging.