Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

摘要

A 20-year-old man was admitted to our service with bilateral paraplegia of the legs, loss of bowel and bladder function, and chronic progressive encephalopathy. He had been well until a year prior to admission when he developed a slowly progressive leg weakness with loss of bowel and bladder control. Subsequently he developed episodes of forgetfulness, sleepiness, and markedly slowed speech. [...]