SHM Converge Scientific Abstract ePoster Gallery-Degos Drama With a Thiamine Twist

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A 40-year-old woman with Degos disease, chronic malabsorption, ileocecectomy, and dependence on total parenteral nutrition presented with 4 days of unsteady gait, somnolence, and confusion. She had switched from IV to oral thiamine 3 months earlier. On exam, she was encephalopathic with nystagmus and ataxia. Labs showed multiple nutritional deficiencies, including low thiamine, and other deficiencies such as vitamins B6 and D, zinc, and selenium.<br /><br />Because Degos disease can involve the central nervous system, the team initially considered Degos-related neurologic disease, along with autoimmune, infectious, and paraneoplastic causes. Brain MRI showed symmetric T2/FLAIR hyperintensity in the mammillary bodies, tegmentum, and cerebral aqueduct—findings more consistent with Wernicke’s encephalopathy than Degos disease. Additional workup was negative, and the diagnosis of thiamine-deficiency Wernicke’s encephalopathy was established.<br /><br />She was treated with high-dose IV thiamine: 500 mg three times daily for two days, then 250 mg three times daily for two days. Her nystagmus and ataxia improved, though some disorientation and visual hallucinations persisted.<br /><br />The case highlights the diagnostic challenge of evaluating neurologic symptoms in patients with rare systemic diseases like Degos disease. It emphasizes that Wernicke’s encephalopathy can occur in patients with malabsorption and inadequate vitamin supplementation, especially those dependent on TPN. MRI can help distinguish Wernicke’s encephalopathy from neurologic involvement of Degos disease.

Asset Subtitle

Evan Raff

Meta Tag

Author List Anna Ilyasova, Elizabeth Stern, Evan Raff, Kathleen Aldrich, Mukhtar Adem, Nicholas Piazza

Category Clinical Vignettes

Concept Wernicke Encephalopathy

Concept Degos Disease

Concept Thiamine Deficiency

Concept Malabsorption

Concept Artificial Nutrition

Distinguished Non-Finalist

Presenter Organization University of North Carolina School of Medicine

Presenting Author Evan Raff

Track Adult

Keywords

Degos disease

Wernicke encephalopathy

thiamine deficiency

malabsorption

total parenteral nutrition

ataxia

nystagmus

brain MRI

mammillary bodies

nutritional deficiencies

Wernicke Encephalopathy

Degos Disease

Thiamine Deficiency

Malabsorption

Artificial Nutrition