Dry beriberi: a still existent and treatable condition in Western world. (P5.318)

Andrea Loggini, Katerine Schwartz,Tao Xie

Neurology(2018)

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摘要
Objective: To describe the presence and reversibility of nutritional polyneuropathy in Western world. Background: Thiamine is co-enzyme of pyruvate dehydrogenase, the rate-limiting step of Krebs cycle. Its deficiency provokes loss of ATP production and cellular damage. Neurons are exquisitely sensitive to anaerobic conditions, and neurological manifestations are predominant in the context of thiamine deficiency. Three classic neurological syndromes are recognized: dry beri-beri (a patchy axonal polyneuropathy), Wernicke encephalopathy (characterized by the triad of confusion, ophthalmoplegia, and ataxia), and Korsakoff’s psychosis (manifesting as retrograde and anterograde amnesia, as well as confabulation). High risk conditions are alcoholism, malabsorption, malnutrition, and chronic hemodialysis. Neuroimaging usually demonstrates abnormality in the mammillary bodies and medial thalami. Treatment is with high doses of intravenous thiamine. Design/Methods: This is a 29-year-old obese woman with recent history of gastric restrictive surgery, who was admitted to our institution for viral gastroenteritis and profuse emesis. She was found unable to walk, and neurology was consulted. Neurologically, she had mild confusion, with almost complete ophthalmoplegia and vertical nystagmus, normosthenia, normoreflexia, distal apallesthesia and abatesthesia, and truncal ataxia. Brain MRI showed abnormality in the medial vestibular nuclei. CSF analysis was unremarkable. EMG/NCV demonstrated patchy motorsensory polyneuropathy. B1 level was low at 31 nmol/L. She was started on parenteral thiamine supplement. One month later, her neurological exam completely normalized. B1 level was rechecked 129 nmol/L. Results: This patient presented with complete neurological symptomatology from malabsorptive thiamine deficiency precipitated by emesis. The absence of superimposed alcoholic neuropathy allowed to find pure dry beriberi findings on neurophysiological study. Rapid diagnosis and replenishment led to complete neurological recovery. Conclusions: Thiamine deficiency must always be considered in high risk patients with atypical neurological presentation. Pure patchy polyneuropathy is rare but highly suggestive of carential etiology. High doses of parenteral thiamine are safe and must be started immediately after drawing the hematic level. Disclosure: Dr. Loggini has nothing to disclose. Dr. Schwartz has nothing to disclose. Dr. Xie has nothing to disclose.
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