Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

We report oil the case of a 36-Near-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA cA82G >A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia arthritis, bilateral cataracts. 9 tract infections, and mentalillness. There was 110 significant past history of mental retardation, failyre to thrive, or seizuire disorder as reported in classic cases of cb1C Prior to the thrombotic incident. the patient experienced increased paresthesia in the lower extremities, myelopathy, ancl impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering Until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neutropsychiatric presentation in late onset cb1C. Ten other reported late onset cases with similar presentations are also reviewed. (C) 2007 Wiley-Liss. Inc.