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Thiamine is a water-soluble vitamin found in yeast, legumes, pork, brown rice, and cereals. Thiamine deficiency can result in the following disorders:
Infantile beriberi – Presents at 2-3 months of age with cardiomegaly, tachycardia, cyanosis, dyspnea, vomiting, and a loud, piercing cry with symptoms secondary to formula lacking thiamine.
Adult beriberi, dry – Symmetrical distal extremity peripheral neuropathy characterized by both sensory and motor impairment.
Adult beriberi, wet – Neuropathy plus evidence of cardiac involvement with cardiomegaly, cardiomyopathy, congestive heart failure, and peripheral edema.
Wernicke-Korsakoff syndrome – Wernicke encephalopathy is a triad of nystagmus, ophthalmoplegia, and ataxia with associated confusion often found in alcoholics with chronic thiamine deficiency. Korsakoff syndrome refers to the chronic neurologic condition of impaired short-term memory loss and confabulation that is a result of Wernicke encephalopathy.
Leigh syndrome – A mitochondrial disorder of progressive subacute necrotizing encephalomyopathy of infancy associated with thiamine deficiency.
Differential Diagnosis & Pitfalls
Differential for wet beriberi:
Hyperthyroidism / thyrotoxicosis
Cardiomyopathy secondary to diabetes, alcohol, or other etiologies
Liver failure
Severe anemia
Other causes of high-output heart failure
Differential for Wernicke-Korsakoff syndrome:
Psychiatric disease (delusions, schizophrenia, schizophreniform disorder, etc)
Delirium
Delirium tremens
Structural diseases in the medial thalami, hippocampi, or inferior medial temporal lobes such as top-of-the-basilar stroke, hypoxic-ischemic encephalopathy after cardiac arrest, herpes simplex virus encephalitis, and third ventricular tumors
Differential for dry beriberi:
Diabetic peripheral neuropathy
Differential for infantile beriberi:
Infections such as meningitis
Pediatric forms of the illnesses above including hyperthyroidism, cardiomyopathy, liver failure, etc
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