Thursday, March 23, 2023

Pediatric Beriberi


In 1630 a Dutch physician, Jacobus Bonitus, observed in Java, “a very troublesome affliction, …called by the inhabitants Beri-beri (which means sheep), those, whom this same disease attacks, with their knees shaking and the legs raised up, walk like sheep.”

In the last 100 years, the cause of beriberi was determined to be deficiency of thiamine (vitamin B1), a water-soluble and heat-labile vitamin required for carbohydrate metabolism.
Thiamine is essential for most vertebrates and some microorganisms. Beriberi has 2 main forms in humans, depending on the system of maximum involvement. Wet (edematous) beriberi is a cardiovascular dysfunction that is usually chronic but may have an acute presentation. Dry beriberi is a multifocal peripheral and/or central neurologic dysfunction, which includes Wernicke encephalopathy and Korsakoff syndrome. Often times, patients present with involvement of both systems.

How a single vitamin deficiency can have such diverse patterns of presentation is not fully understood, but genetic differences in the 3 enzymes that use thiamine are likely to play a large role. Other potential explanations include the coexistence of other vitamin or dietary deficiencies; simultaneous comorbidities, stressors, or both; and variations in tissue stores or turnover of the vitamin. During an Israeli outbreak of beriberi in late 2003, 600-1000 infants consumed a thiamine-deficient formula, yet only a small number manifested clinical manifestations.

Although the thresholds and prevalence varies in both developed and underdeveloped countries, beriberi is presently found in situations outside of the normal protective measures of modern society. Also, unusual physiologic conditions in which beriberi could have been predicted have been documented. Finally, chance circumstances in which thiamine deficiency is fully unanticipated have also been recognized. Dietary thiamine deficiency can be caused by an overall poor nutritional intake, by dietary customs that rely heavily on inadequate food sources (eg, milled rice), and, rarely, by consuming foods that contain thiaminases or antithiamine compounds.

Because its husk is an important source of thiamine, changes in rice processing may contribute to a higher rate of thiamine deficiency unless this risk factor is recognized. A cohort at particularly high risk are alcoholics who have poor nutrition and because alcohol also impairs thiamine absorption. A newly appreciated cohort of individuals with thiamine deficiency are patients who have had bariatric surgery.

In 1998, the Institute of Medicine of the National Academies published the recommended dietary intake of thiamine and other B vitamins for males and females (from infants to the elderly).
Also, a comprehensive monograph on beriberi was commissioned by the World Health Organization; it recommends that the term beriberi be replaced by thiamine deficiency.

For more information regarding the cardiovascular and neurologic manifestations encountered in adult patients, see the Medscape Reference article Beriberi (Thiamine Deficiency). See the image below.



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