Description
An 11-year-old, developmentally normal girl presented with recurrent seizures for the past 2 years. She was also noted to have progressively increasing head size since early infancy. She was born to non-consanguineous parents from the Aggarwal community in India and had a 7-year-old younger sister with similar problems. There was no associated history of vision impairment, tone abnormalities, cognitive or behavioural problems, extrapyramidal movements or gait changes. Examination showed head circumference of 58 cm (>3 z-scores), a single café-au-lait macule and normal bilateral fundi. The rest of the systemic examination was unremarkable. Parental head circumference was normal. She was evaluated for familial macrocephaly with epilepsy. MRI brain showed diffuse involvement of the subcortical and periventricular white matter with sparing of corpus callosum and formation of subcortical cysts (figure 1A–D). Electroencephalogram showed intermittent spike-slow waves from left temporal and right centroparietal areas and bilateral frontal intermittent rhythmic delta activity. Targeted...
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