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.