Table 2.

Diagnostic testing results case #1

Diagnostic Study	Results
Magnetic resonance imaging (MRI) Brain-T2	Bihemispheric cerebral white matter changes, suggestive of a global demyelinating process
EMG	Diffuse myopathy with normal conduction velocities
EKG	Sinus rhythm with non-specific ST-T wave changes.
2D Echocardiogram	Mitral valve prolapse with reduced bilateral systolic ventricular function
Visual evoked responses	Decreased bilaterally with prolongation of P100 component
Orbicularis oculi muscle biopsy	Numerous ragged red fibers with elevated succinate dehydrogenase staining and cytochrome-c oxidase staining in many fibers [Figure 1]. Structurally abnormal mitochondria are present on electron microscopy [Figure 2].