Abstract Details

We present a case of a 33-year-old African American woman with a medical history of obesity, reflux, and h pylori gastritis presenting with imaging findings of Wernicke’s encephalopathy along with peripheral manifestations of dry beriberi neuropathy, with GI involvement, causing gastroparesis.  She presented with subacute progressive weakness, gait disturbance, headache, lethargy and blurry vision. On exam she had decreased visual acuity with disc blurring and optic disc edema, bilateral intranuclear ophthalmoplegia, horizontal ophthalmoparesis, diffuse flaccid weakness in her upper and lower extremities and areflexia.

Laboratory testing showed deficiency of thiamine, folate, ionized Ca and vitamins A, D, C, and K. CSF showed albuminocytologic dissociation. Magnetic resonance imaging showed FLAIR hyperintensity within the mamillary bodies, tectal plate, medial thalami, dorsal medulla, and periaqueductal grey matter with associated enhancement within the medullary bodies, tectal plate and dorsal brainstem. She had abnormal thickening and enhancement of the cauda equina nerve roots and several bilateral, exiting cervical and thoracic nerve roots. Nerve conduction studies showed conduction blocks in all motor nerves with very slow velocities and prolonged distal latencies, indicative of a demyelinating generalized neuropathy with sensory nerve involvement. Gastric emptying testing showed a mildly prolonged gastric emptying time with gastroparesis. 

She was started on IV thiamine 500 mg three times a day.Within three days of supplementation she demonstrated resolution of ophthalmoplegia, improved cognition and improvement in lower extremity ataxia and weakness. Repeat MRI after 10 days of treatment demonstrated improvement in most affected areas.

This is a unique case of multiple neurologic manifestations of thiamine deficiency occurring in an atypical patient, without a history of alcoholism or prior bariatric surgery that would impair nutrient absorption. Recognition of these manifestations is crucial, as reversibility and prognosis depends on timing of thiamine repletion and if unrecognized is associated with significant morbidity and mortality.