Case Presentation:
A 42‐year‐old female with an extensive psychiatric history of depression, fibromyalgia, and pseudo‐seizures, as well as obesity and chronic constipation, presented as an outpatient with fatigue, muscle pain, weight loss from poor oral intake, and weakness. Creatine kinase levels were elevated, and her muscle symptoms seemed to respond to prednisone, leading to a diagnosis of an inflammatory myopathy. Over the next 8 months, she also complained of increasing fatigue, poor appetite, nausea, and abdominal pain. Her weight loss continued and eventually totaled more than 60 pounds. Finally, she sought acute medical attention because of a new complaint of dyspnea with exertion. Initial workup was focused on her gastrointestinal issues and on her lower‐extremity weakness, and her mild confusion was attributed initially to her severe psychiatric disease. Over several days, however, her dyspnea worsened, and she developed hypoxemia and worsening tachycardia. Chest radiography revealed diffuse infiltrates. Echocardiogram showed her to have a dilated cardiomyopathy with severe global LV dysfunction. Cardiac enzymes were negative. At the same time, she became encephalopathy, and neurologic examination revealed ataxia and nystagmus. Electroencephalogram was consistent with a toxic, metabolic encephalopathy. Based on these neurologic findings and her new cardiomyopathy, severe Thiamine deficiency was suspected. Intravenous thiamine was administered, and serum thiamine level was found to be undetectably low, confirming thiamine deficiency. Over the subsequent month, her left ventricular dysfunction resolved, and her mental status gradually improved over her hospital course, neady to her previous baseline, as well as her muscle pain and weakness.
Discussion:
Manifestations of thiamine deficiency include beriberi. Wernicke's disease, as well as Korsakoff psychosis. Dry beriberi refers to peripheral neuropathy, whereas wet beriberi typically involves neuropathy as well as findings of congestive heart failure. Wernicke's disease involves some, but usually not all, of the classic triad of nystagmus, ophthalmoplegia, and ataxia; confusion is typically present. Both cardiac and neurologic abnormalities are typically reversible with thiamine supplementation, although the degree and duration of deficiency can lead to variability in recovery from symptoms. Blood Ihiamine level is the quickest and mosl accurate way to confirm this diagnosis. Risk factors in developed countries include alcoholism, malnutrition, bariatric surgery, malabsorptive syndromes, hyperemesis gravidarum, diuretics, dialysis, increased metabolic demand, and genetic predisposition.
Conclusions:
Thiamine deficiency is an unusual cause of encephalopathy and multiple other serious medical symptoms. A thorough approach to altered mental status and accounting for other abnormalities and preexisting risk factors led to diagnosis and treatment of a potentially reversible condition.
Author Disclosure:
B. Uthlaut, none.