Case history
Case history #1
A 55-year-old male smoker is admitted with pneumonia. He lives alone and has been unemployed for several years, receiving unemployment benefit but no additional social support. He is unkempt and thin, with a BMI of 19 kg/m². His liver function tests show moderately elevated transaminases (aspartate aminotransferase [AST] 82 IU/L, alanine aminotransferase [ALT] 130 IU/L) and gamma-glutamyl transferase (300 IU/L). On admission the patient seems confused. This is attributed to fever from the underlying sepsis. Intravenous fluids, including dextrose (which may precipitate Wernicke encephalopathy), and empiric antibiotics are commenced. The following day the patient is increasingly confused and unable to stand unaided. Nystagmus is noted. High alcohol intake is suspected, but no independent social history is available. Supplemental parenteral thiamine is initiated. The patient gradually improves but has continuing problems with his memory and appears to invent events to compensate for this. He remains unsteady on his feet and is found to have poor sensation in his lower limbs. The patient is admitted to a nursing home for long-term care.
Case history #2
A 60-year-old woman with a 2-month history of poor appetite and vomiting is found to have gastric cancer on endoscopy. She undergoes a surgical resection but develops an enterocutaneous fistula. Treatment involves resting the bowel, and feeding with total parenteral nutrition is commenced. The patient receives recommended standard doses of all micronutrients. After 10 days the patient becomes hypotensive, tachypneic, and tachycardic. She is found to have a metabolic acidosis with a plasma lactate of 5 mmol/L. Thiamine deficiency is suspected and additional thiamine is administered. There is rapid correction of acidosis and normalization of lactate levels.
Other presentations
Vitamin B1 deficiency can present in several ways depending on the cause of the deficiency, presence of comorbidities, age, and general susceptibility. Early subclinical deficiency has nonspecific symptoms, such as fatigue and muscle aches. Acute, severe deficiency results in Wernicke encephalopathy with the classic triad of mental state changes, ataxia, and ocular abnormalities (e.g., nystagmus and strabismus). Wernicke encephalopathy leads to Korsakoff psychosis, which is characterized by retrograde and anterograde amnesia causing the inability to memorize new information, and confabulation (inventing events in order to compensate for lack of memory), but with general preservation of other intellectual functions. Cardiac sequelae in wet beriberi can occur with acute or chronic deficiency. These can either be high-output cardiac failure with peripheral vasodilation, peripheral edema, and orthopnea, or low-output cardiac failure with lactic acidosis and peripheral cyanosis (also known as Shoshin beriberi). Dry beriberi is a distal peripheral polyneuropathy that occurs with chronic deficiency. Infantile beriberi mostly occurs in infants exclusively breastfed by mothers deficient in vitamin B1. It exists in three forms: cardiogenic (cardiac failure and cyanosis), aphonic (vocal-cord paralysis), and pseudomeningitic (clinical meningismus with negative cerebrospinal fluid [CSF] findings).[10]
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