A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement

A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on...