Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)
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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. Following several admissions to outlying hospitals the diagnosis of demyelinating disease was suggested and he was treated with corticosteroids. Despite this therapy, his condition deteriorated and he became wheelchair dependent. A month before admission he developed a deep venous thrombosis of his left leg and pelvic veins that required hospitalization and treatment with Coumadin. There was no history of infections or intoxications that might …
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