Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels Journal Article
| Authors: | Graber, J. J.; Sherman, F. T.; Kaufmann, H.; Kolodny, E. H.; Sathe, S. |
| Article Title: | Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels |
| Abstract: | Leukoencephalopathy and autonomic dysfunction have been described in individuals with very low serum B12 levels (<200 pg/ml), in addition to psychiatric changes, neuropathy, dementia and subacute combined degeneration. Elevated homocysteine and methylmalonic acid levels are considered more sensitive and specific for evaluating truly functional B12 deficiency. A previously healthy 62-year-old woman developed depression and cognitive deficits with autonomic dysfunction that progressed over the course of 5 years. The patient had progressive, severe leukoencephalopathy on multiple MRI scans over 5 years. Serum B12 levels ranged from 267 to 447 pg/ml. Homocysteine and methylmalonic acid levels were normal. Testing for antibody to intrinsic factor was positive, consistent with pernicious anaemia. After treatment with intramuscular B12 injections (1000 mg daily for 1 week, weekly for 6 weeks, then monthly), she made a remarkable clinical recovery but remained amnesic for major events of the last 5 years. Repeat MRI showed partial resolution of white matter changes. Serum B12, homocysteine and methylmalonic acid levels are unreliable predictors of B 12-responsive neurologic disorders, and should be thoroughly investigated and presumptively treated in patients with unexplained leukoencephalopathy because even long-standing deficits may be reversible. |
| Keywords: | adult; middle aged; anamnesis; case report; nuclear magnetic resonance imaging; magnetic resonance imaging; statistics; drug effect; pathology; depression; blood; immunology; drug combination; drug therapy, combination; brain; laboratory test; vitamin d; dementia; neuropsychological test; vitamin supplementation; cognitive defect; cyanocobalamin deficiency; homocysteine; cognition disorders; autoantibody; mental health; autoantibodies; depressive disorder; autonomic neuropathy; leukoencephalopathy; psychometrics; neurologic examination; psychometry; cyanocobalamin; methylmalonic acid; vitamin b 12; vitamin blood level; autonomic dysfunction; fludrocortisone; midodrine; intrinsic factor; mini mental state examination; autonomic nervous system diseases; leukoencephalopathies; mental status schedule; vitamin b 12 deficiency |
| Journal Title: | Journal of Neurology Neurosurgery and Psychiatry |
| Volume: | 81 |
| Issue: | 12 |
| ISSN: | 0022-3050 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2010-12-01 |
| Start Page: | 1369 |
| End Page: | 1371 |
| Language: | English |
| DOI: | 10.1136/jnnp.2009.178657 |
| PUBMED: | 20587489 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Export Date: 20 April 2011" - "CODEN: JNNPA" - "Source: Scopus" |
