Focal cortical dysplasia and heterochromia of the iris

A 30-year-old Hispanic female was evaluated for a chronic seizure disorder manifesting as a composite left arm and leg sensory and auditory aura followed by a convulsive phase. Clinical examination revealed subtle left somatic hemiatrophy, left-sided sensorineural hearing loss and a left extensor plantar response. MRI of the brain showed massive right frontocentral pachygyria (figure 1). Inspection of the eyes revealed heterochromia iridum (HI), the right iris light blue, the left iris partly brown (figure 2). She reported that her mother had blue eyes, and her father had brown eyes.

Comment

Large malformations of cortical development involving the primary motor areas of the brain are frequently associated with contralateral somatic findings. Associated asymmetry of eye colour, however, has not been reported. Though HI may occur in healthy individuals as a rare variant,1 in this patient it was likely related to the brain malformation,2…

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