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Clinical Pathologic Conference
September 2016

A Rare Cause of MyoclonusA Cupric Conundrum

Author Affiliations
  • 1Regional Neurosciences Unit, Royal Victoria Hospital, Belfast, Northern Ireland
  • 2Regional Nephrology Unit, Belfast City Hospital, Belfast, Northern Ireland
  • 3Department of Neurology, Craigavon Area Hospital, Portadown, Northern Ireland
  • 4Department of Pathology, Royal Victoria Hospital, Belfast, Northern Ireland

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JAMA Neurol. 2016;73(9):1145-1148. doi:10.1001/jamaneurol.2016.1553

A woman aged 22 years presented with a 3-year history of jerks when brushing her teeth and a tremor when carrying drinks. Examination revealed a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait. Thyroid and liver function test results were normal, but she had rapidly progressive renal failure. Serum copper, ceruloplasmin, and manganese levels were normal, but her urinary copper level was elevated on 2 occasions. Pathological findings on organ biopsy prompted genetic testing to confirm the diagnosis. The differential diagnosis, tissue biopsy findings, and final genetic diagnosis are discussed.