%0 Case Reports %T Treating Fragile X syndrome with the diuretic bumetanide: a case report. %A Lemonnier E %A Robin G %A Degrez C %A Tyzio R %A Grandgeorge M %A Ben-Ari Y %J Acta Paediatr %V 102 %N 6 %D Jun 2013 %M 23647528 %F 4.056 %R 10.1111/apa.12235 %X We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX.
CONCLUSIONS: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.