Objective: To report a rare case of Wilson’s disease with truncal myoclonus and absent KF ring.

Background: Mycolonus is very rare in Wilson’s disease with handfull of case reports in literature but spinal or trunkal myoclonus is even rarer with only one case reported (1). KF ring is considered to be diagnostic in almost 100% with neurological & psychiatric involvement(2). Absent KF ring in Wilson’s disease is seldomly seen and causes a diagnostic dilemma in most wilsons disease with neurological symptoms.

Methods: A 32 year old female presented with behavioural disturbance since 41/2 years and involuntary movements of trunk since 3 years. In view of involuntary movements was investigated & diagnosed to have trunkal myoclonus with reduced serum ceruloplasmin and abnormal serum urinary copper excretion and mri features consistent with Wilson’s disease. She was also evaluated by 2 senior ophthamologist with experience in Wilson’s disease to have absent KF ring on slit lamp examination.

Results: Trunkal myoclonus with the added rarity of absent KF ring makes it a case with conundrum for diagnosis in a background of behavioural onset Wilsons disease.

Conclusions: Movement disorders in the absence of KF ring even in its rarity must be evaluated for Wilson’s disease. We report a rare case of Wilson’s disease with trunkal myoclonus and absent KF ring.

References: (1) Nair KR, Pillai PG (1990). Trunkal myoclonus with spontaneous priapism and seminal ejaculation in Wilson’s disease. J Neurol Neurosurg Psychiatry 53: 174. (2) Taly A B, Prashanth L K, Sinha S. Wilson’s disease: An Indian perspective. Neurol India 2009;57:528-40.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/functional-conundrum-in-wilsons-disease/