Recent studies indicate excitatory GABA action in and around tubers in patients with tuberous sclerosis complex (TSC). This may contribute to recurrent seizures and behavioral problems that may be treated by agents that enhance GABAergic transmission by influencing chloride regulation.
Here, we used the chloride transporter antagonist bumetanide to treat a female adolescent TSC patient with refractory seizures, sensory hyper-reactivity, and a variety of repetitive and compulsive behaviors.
To evaluate the effect of bumetanide on behavior, auditory sensory processing, and hyperexcitability, we obtained questionnaire data, event-related potentials (ERP), and resting state EEG at baseline, after 3 and 6 months of treatment and after 1 month washout period.
Six months of treatment resulted in a marked improvement in all relevant behavioral domains, as was substantiated by the parent questionnaires. In addition, resting-state electroencephalography and ERP suggested a favorable effect of bumetanide on hyperexcitability and sensory processing. These findings encourage further studies of bumetanide on neuropsychiatric outcome in TSC.