Brain Control of Horizontal Saccadic Eye Movements (Guest Lecture)

In 1995 I published this case alongside eleven personal cases, three with the Kearns-Sayer Syndrome (KSS) and five with Progressive External Opthalmoplegia (PEO). Am J of Neuroradiol:16 (5);1167-1173. The patient was under the care of Dr. Raymond Adams from age 13 years. In 1991, at age 40 years, I was asked to see her and follow her with him. She presented at age 9 with bilateral ptosis and 5 months later external ophthalmoplegia which progressed to almost complete fixation of all eye movements. Diagnosis: Progressive external ophthalmoplegia (PEO) In 7th grade, she developed hearing loss and ultimately became totally deaf. In 1972, at age 21, a fundus examination showed a mottled pigment disturbance in the macula area of both eyes. Diagnosis: Atypical retinitis pigmentosa. (Figure 1) At age 29, she started to use ptosis crutches on her glasses to keep her eyes open. (Figures 2 and 3) At age 33, she developed a peripheral sensory neuropathy, elevated CSF protein > 100 mg/dl, and an Adie's myotonic pupil in the right eye which has congenital heterochromia. (Figure 4) Electromyographic studies confirmed at this time a proximal myopathy with mild weakness in the proximal muscles of her legs. At age 38, she noted increasing difficulty with her balance and coordination and the onset of dysphagia due to pharyngeal dystrophy. At age 39, a muscle biopsy showed on modified Gomori trichrome staining, ragged-red fibers and a large 9.1kb mtDNA deletion was identified. Diagnosis: Mitochondrial Myopathy The patient was started on a trial of Folate and Co-Enzyme Q10. Brain MRI at age 61,showed moderate cerebellar atrophy and slight dilatation of the third ventricle. In 1995 she entered a home for assisted living and was lost to follow-up. Her cardiac status, which was frequently evaluated, remained normal. The term Mitochondrial Cytopathy has been used to emphasize multisystem involvement in KSS. This patient illustrates this, with: Progressive External Ophthalmoplegia Atypical Retinitis Pigmentosa Deafness Peripheral Sensory Neuropathy Adie's Myotonic Pupil Proximal Myopathy Pharyngeal Dystrophy Ataxia/Cerebellar Atrophy. See also: http://content.lib.utah.edu/cdm/ref/collection/ehsl-shw/id/124