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Subacute sensory ataxia and optic neuropathy with thiamine deficiency

Abstract

Background. A 71 year-old man with a history of partial gastrectomy presented to the emergency department with subacute gait instability associated with painful dysesthesias and clumsiness in both hands. 10 years before presentation he had received a diagnosis of megaloblastic anemia, with no neurological involvement, as a result of vitamin B12 and folate deficiency, for which he was receiving regular supplements.

Investigations. Neurological examination; routine laboratory testing; MRI of the spine and brain; lumbar puncture; electromyography; sensory, motor and visual evoked potentials, optic nerve optical coherence tomography; immunoelectrophoresis; cryoglobulins; immunological and infection tests; screening for onconeural antibodies; measurement of serum metabolic values, including vitamins B12 and E, folates, homocysteine, copper, zinc and pyruvic acid; transketolase activity; gastrointestinal endoscopies; and the glucose breath test.

Diagnosis. Subacute sensory ataxia with bilateral optic neuropathy related to thiamine deficiency resulting from remote partial gastrectomy.

Management. Parenteral thiamine supplementation followed by chronic oral thiamine and short-term, low-dose multivitamins.

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Figure 1: Fundus photograph of the patient with thiamine deficiency.

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Acknowledgements

We thank Dr M. Ferullo for electrophysiological studies, Dr J. Fleming for revising the English language usage and L. Santinello for excellent assistance as librarian. M. Spinazzi is very grateful for receiving research funding from the Stevanato Group Spa, in memory of its founder Giovanni Stevanato.

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Correspondence to Marco Spinazzi.

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Spinazzi, M., Angelini, C. & Patrini, C. Subacute sensory ataxia and optic neuropathy with thiamine deficiency. Nat Rev Neurol 6, 288–293 (2010). https://doi.org/10.1038/nrneurol.2010.16

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