Adam presented a case of a 32yo woman with an extensive alcohol history presenting with seizure in setting of recent cessation of alcohol. Pt has also been complaining of weakness in her legs to the point she could no longer walk, worsening vision, and urinary incontinence for the past few months. Per her family, she only ate one meal a day and she was quite picky in terms of her diet.

She was treated for alcohol withdrawal and delirium tremems. When she was stabilized, her neurological exam was concerning for significant weakness in proximal and distal upper and lower extremities, paresthesia, dysmetria, and hyporeflexia.  An EMG was done which revealed peripheral polyneuropathy. This constellation of symptoms (alcohol, poor nutrition, polyneuropathy) is consistent with… Beriberi!

Thiamine deficiency

Epidemiology

• Developing countries
• Alcoholics
• Extreme poverty
• Displaced populations, refugees

Common Risk factors

• Poor nutrition
• Alcohol
• Weight loss surgery
• Long term TPN

Presentation of Thiamine Deficiency

• Wet beriberi
  • Heart failure due to thiamine deficiency (high out heart failure)
  • Vasodilation, tachycardia, widened pulse pressure, diaphoresis, lactic acidosis, peripheral edema
• Dry beriberi
  • Peripheral polyneuropathy, affects predominantly lower extremities, both sensory and motor deficits, can lead to muscle wasting, loss of deep tendon reflexes, paralysis of the lower legs, mental confusion, speech difficulties, nystagmus
• Wernicke Korsakoff
  • Wernicke Encephalopathy: triad of encephalopathy (disorientation, inattentiveness indifference), gait ataxia, and oculomotor symptoms (nystagmus, lateral rectus palsy, conjugate gaze palsies)
    • Triad only seen in 1/3 of patients, most only have around 2.
    • Diagnosis: Clinical but there is a proposed Caine Criteria
      • Dietary deficiency
      • Oculomotor abnrl
      • Cerebellar dysfunction
      • Encephalopathy or memory impairment.
      • 2/4
  • Korsakoff Syndrome: Memory loss, confabulation, +/-hallucinations

Pathophysiology

• Chronic inadequate intake of thiamine (vitamin B1) leading to degeneration of the peripheral nerves, thalamus, mammillary bodies, and cerebellum.
• Heart may become dilated, may lead to a high output heart failure
• Vasodilation can occur causing edema

Diagnosis

• Clinical history
• Thiamine level
• Clinical improvement with thiamine administration
• CT: May see classic atrophy in the mammillary bodies in Wernicke Korsakoff, highly specific.

Management

• DO NOT GIVE GLUCOSE 1st, thiamine must be repleted first or else glucose infusions may worsen symptoms. Alcoholics should receive IV thiamine, at least 100mg, before receiving any IV glucose solutions.
• Nutritional support, thiamine replacement
• Fix underlying cause (i.e. alcohol)
• Thiamine initially is given in very high doses if treating, 500mg IV 3 times daily for 3 days, then 250mg daily for 3-5 days, then transition to 100mg PO daily.

Prognosis

• Most will have a degree of neurological deficits despite treatment.