Tuesday, November 29, 2016
Biotinidase deficiency mimicking NMO: initiallyexhibiting symptoms in adulthood
Bottin L, Prud'honS, Giannesini C et al. Multiple Sclerosis 21 (12) 1604-07 2015.
Authors present first case of biotinidase deficiency presenting in young adulthood ; children and adolescents may present with vision loss and tetraparesis. It was due in this case to a novel missense mutation and partly improved with oral biotin therapy.
Posted by Neurodoc at 5:20 PM