The iron paradox: a case of acaeruloplasminaemia.

نویسندگان

  • J Williamson
  • J Holt
چکیده

Acaeruloplasminaemia is a rare neurodegenerative disorder in which dysfunction of the caeruloplasmin gene results in brain iron accumulation alongside systemic iron overload. We discuss the case of a 53-year-old male who presented to neurology with a 4-year history of progressive neuropsychiatric symptoms and was eventually diagnosed with this condition. We discuss the characteristic clinical features and supporting laboratory and radiological findings as well as clinical pointers to help differentiate it from other conditions which might cause diagnostic confusion.

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عنوان ژورنال:
  • The journal of the Royal College of Physicians of Edinburgh

دوره 47 2  شماره 

صفحات  -

تاریخ انتشار 2017