{Reference Type}: Case Reports {Title}: Treating Fragile X syndrome with the diuretic bumetanide: a case report. {Author}: Lemonnier E;Robin G;Degrez C;Tyzio R;Grandgeorge M;Ben-Ari Y; {Journal}: Acta Paediatr {Volume}: 102 {Issue}: 6 {Year}: Jun 2013 {Factor}: 4.056 {DOI}: 10.1111/apa.12235 {Abstract}: 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.