A 23-year-old man with seizures and visual deficit

CASE PRESENTATION

A 23-year-old man was the product of an uncomplicated pregnancy, labor, and delivery and enjoyed normal health, growth, and development throughout infancy and early childhood. At 6 years, he had difficulty catching a ball due to visual disturbance and was diagnosed with cone dystrophy. He had progressive visual dysfunction, becoming severely visually impaired at age 8. He learned Braille and was an excellent student early on. His scholastic aptitude, however, declined during middle school and high school years. He had a brief college career in which he failed several courses and did not successfully graduate.

Fifteen months prior to his initial presentation, he developed “spells,” characterized by the sudden onset of generalized jerking, associated with drooling and rolling back of his eyes. Prior to these spells, he often would have tonic posturing. The spells would begin without warning, focal features, or automatism and last 3 to 5 minutes, during which he would often become incontinent of urine. For the next 1 to 2 hours, he would be drowsy. An EEG, done 12 months prior to presentation, showed “mild slowing in the right hemisphere with bifrontal high amplitude waveforms and abnormal background activity.” Treatment with phenytoin was initiated shortly thereafter.

A head MRI 4 months prior to presentation was reported as normal apart from minimal cerebral and moderate cerebellar atrophy.

He had had eight spells in total, which were all similar in nature; four of the spells occurred within the 2 months prior to presentation. He had been living outside of the home for a number of years but returned to live with his parents because of the recurrent spells. His parents noted progressive difficulty over the recent 2 to 3 years with shuffling gait, slowness of speech, gait imbalance, and memory impairment. In addition, he had rare falls that were …