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New Cause of an Old Syndrome

E. H. Reynolds, FRCP; T. Bottiglieri, PhD; M. Laundy, HNC; J. Stern, MRCPsych; J. Payan, FRCP; J. Linnell, PhD; J. Faludy, BSc

Arch Neurol. 1993;50(7):739-742.

Abstract
• Subacute combined degeneration of the spinal cord due to vitamin B₁₂ deficiency invariably has been associated with a low serum vitamin B₁₂ level. We describe a young man who presented with a unique syndrome of subacute combined degeneration associated with high serum vitamin B₁₂ level, low red blood cell vitamin B₁₂ level, and an abnormal plasma vitamin B₁₂-binding protein. Uptake of cobalamin by his leukocytes in vitro was inhibited by his own but not by normal control plasma. Intensive hydroxocobalamin (vitamin B₁₂) treatment was associated with clinical and electrophysiologic recovery accompanied by normalization of mean corpuscular volume, red blood cell vitamin B₁₂ level, plasma homocysteine, and urinary methylmalonic acid. The subacute combined degeneration was probably precipitated by treatment with folic acid as the significance of his high serum vitamin B₁₂ level was not apparent when he first presented with megaloblastic anemia 3 years earlier. To our knowledge, this is the first example of neurologic disease associated with high serum vitamin B₁₂ level and provides further evidence that sometimes a serum vitamin B₁₂ level may not be a reliable guide to vitamin B₁₂ deficiency.

Author Affiliations
From the Departments of Neurology (Drs Reynolds, Stern, and Bottiglieri and Mr Laundy) and Clinical Neurophysiology (Dr Payan), King's College Hospital, and the Department of Child Health, Westminster Children's Hospital (Dr Linnell and Ms Faludy), London, England.

Footnotes
Accepted for publication December 8, 1992.

Reprint requests to Department of Neurology, King's College Hospital, Denmark Hill, London, England SE5 9RS (Dr Reynolds).

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