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Clinical Pathologic Conference |

A Rare Cause of Myoclonus A Cupric Conundrum

Karen M. Doherty, MD1; Joanne Shields, FRCP2; Raeburn Forbes, FRCP3; Moyra Gray, FRCPath4; Seamus Kearney, MRCP1; Alexander P. Maxwell, FRCP2; John McKinley, MRCP1
[+] 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
JAMA Neurol. 2016;73(9):1145-1148. doi:10.1001/jamaneurol.2016.1553.
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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.

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Figure.
Renal Biopsy

Examination of the renal cortex revealed focal segmental glomerulosclerosis. Some glomeruli were completely sclerosed (yellow arrowhead [B]), while others had foci of sclerosis as seen in the perihilar region (white arrowheads). Partial collapse of the capillary tuft (blue arrowhead [A]) separates it from the basement membrane. Both images are from the same field (left panel, hematoxylin-eosin [A]; right panel, silver staining [B]).

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The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
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Multimedia

Video 1.

Patient at First Presentation to Movement Disorder Specialist

The video shows postural and action tremor of the outstretched hands and myoclonus (stimulus sensitivity is demonstrated, and jerks are evident when drawing the Archimedes spiral).

Video 2.

Patient 9 Months Later, 2 Months Post–Renal Transplant

The video shows tremor, myoclonus, and dysmetria (past-pointing). The myoclonic jerks cause her difficulty pouring water from one cup to another. Tandem gait is unsteady.

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