%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.