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Cardiac MRI of myocardial iron deposition in hereditary aceruloplasminaemia
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DOI：10.1093/eurheartj/ehag533.png)
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Abstract
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A 53-year-old Chinese man presented with dysarthria and gait instability. Initially diagnosed with Wilson’s disease (WD), he showed no response to penicillamine. His parents were first cousins. On admission, examination revealed cerebellar ataxia without Kayser–Fleischer rings. Laboratory findings showed undetectable ceruloplasmin (<0.02 g/L; 0.20–0.60), elevated ferritin (1996 ng/mL; 24–336), and low serum copper (<63 µg/L; 750–$1450). Whole-exome sequencing identified a homozygous CP c.1944C>G(p.Ser648Arg) variant, confirming aceruloplasminaemia (ACP).
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