Abstract
In this report, we discussed about an 8-year-old girl with mental retardation and spastic paralysis of the lower limbs who was diagnosed with focal segmental glomerulosclerosis. Her past medical record indicated heavy proteinuria at the age of three, so we suspected that her proteinuria had been continued from early in her life. The cause of her mental retardation and spastic paralysis was unknown, and we suspected that her clinical symptoms are caused by some sort of congenital syndrome or mitochondrial cytopathy, but no diagnosis had been made. We also reviewed literature about patients with central nervous involvement and FSGS. According to previous reports of FSGS associated with psychomotor retardation and epilepsy, there are various types of syndromes or diseases that cause secondary FSGS. We are undertaking further research, such as gene analysis, to clarify her underlying disease and its pathology.
