Wernicke encephalopathy (WE) is a life-threatening neuropsychiatric disorder caused by thiamine deficiency (TD). One cause of TD is restrictive food intake. We present a girl with severe, treatment-re Show more
Wernicke encephalopathy (WE) is a life-threatening neuropsychiatric disorder caused by thiamine deficiency (TD). One cause of TD is restrictive food intake. We present a girl with severe, treatment-resistant obesity from infancy due to hyperphagia caused by melanocortin 4 receptor (MC4R) deficiency. When aged 16 years, she presented at the emergency department with diplopia, headache, confusion, and ataxia. She had lost 25 kg in the previous 2 months because of anxiety-induced avoidant and restrictive food intake, despite persistent hyperphagia. Her anxiety had been triggered by a period of nausea and fear of vomiting. Neurological examination revealed horizontal and vertical nystagmus and bilateral abducens nerve palsy. Brain MRI showed typical lesions for WE, such as T2/fluid-attenuated inversion recovery hyperintensities in the medial thalamus, leading to a prompt diagnosis, which was later confirmed by a low thiamine value. Daily intravenous thiamine treatment resulted in significant neurological improvement within days. Her eating behavior gradually normalized with psychological support. This case is notable for the coexistence of hyperphagia and restrictive eating in a patient with MC4R deficiency, demonstrating that limited and restrictive food intake can occur even in the presence of monogenic obesity. This suggests complex interactions between hunger and fear pathways, warranting further research to better understand the pathophysiology of hyperphagia and identify new therapeutic targets for MC4R deficiency. Clinicians should consider WE, even in patients with (severe) obesity. Important signs are restrictive eating and neurological symptoms. Prompt thiamine therapy should be initiated when suspected. Show less