Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.
نویسندگان
چکیده
H. Aitken G. Gorman, MRCP R. McFarland, MRCPCH M. Roberts, FRCP R.W. Taylor, FRCPat D.M. Turnbull, FRCP SECTION 1 A 58-year-old woman presented to a neuroophthalmologist with a 5-year history of progressively blurred vision, diplopia, and longstanding bilateral ptosis. She described occasional choking episodes after eating as well as fatigue and shortness of breath after minimal exertion. Her older sibling had received corrective eyelid surgery for ptosis and two nieces had ptosis and proximal myopathy and were being investigated in another center. Direct and consensual pupillary light reflexes were normal with no rapid alternating pupillary defect. Visual acuity was 20/20 on the right and 20/30 on the left. She had bilateral symmetric ptosis obscuring two-thirds of the pupil and restriction of eye movements below 60% of normal in all directions of gaze. Lower limb examination revealed symmetric proximal limb weakness (Medical Research Council grade 4 ) with reduced reflexes and flexor plantars. Tandem gait was hesitant.
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ورودعنوان ژورنال:
- Neurology
دوره 72 18 شماره
صفحات -
تاریخ انتشار 2009