Bumetanide as a candidate treatment for behavioral problems in tuberous sclerosis complex

Chantal Vlaskamp*, Simon Shlomo Poil, Floor Jansen, Klaus Linkenkaer-Hansen, Sarah Durston, Bob Oranje, Hilgo Bruining

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background: 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. Case presentation: 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. Methods: 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. Discussion: 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.

Original languageEnglish
Article number469
JournalFrontiers in Neurology
Volume8
Issue numberSEP
DOIs
Publication statusPublished - 8 Sep 2017
Externally publishedYes

Cite this

Vlaskamp, C., Poil, S. S., Jansen, F., Linkenkaer-Hansen, K., Durston, S., Oranje, B., & Bruining, H. (2017). Bumetanide as a candidate treatment for behavioral problems in tuberous sclerosis complex. Frontiers in Neurology, 8(SEP), [469]. https://doi.org/10.3389/fneur.2017.00469