Am J Trop Med Hyg. 2021 Apr 19;104(6):2238-2240. doi: 10.4269/ajtmh.20-0881.
Thiamine deficiency disorders are an under-recognized public health problem in low- and middle-income countries. Infantile beriberi, the most important symptom for children, is suspected to significantly contribute to infant mortality and lifelong neurodevelopmental morbidity. Lack of awareness, varied clinical presentation, and lack of a readily available diagnostic marker lead to frequent misdiagnoses. We report six thriving infants who presented with an acute fulminant illness with varied clinical manifestations mimicking common childhood illnesses like pneumonia and sepsis. Four of them presented with the severe cardiovascular form, called Shoshin beriberi, and severe pulmonary arterial hypertension. Empirical intravenous thiamine administered to four of the six infants resulted in dramatic recovery. Awareness of the clinical definition of infantile beriberi and treatment with empirical thiamine can be lifesaving.
硫胺素缺乏症是中低收入国家一个未被充分认识的公共卫生问题。婴儿脚气病是儿童最重要的症状，据推测它会显著导致婴儿死亡率和终身神经发育发病率上升。缺乏认识、不同的临床表现以及缺乏现成的诊断标志物导致频繁误诊。我们报告了六名表现出急性暴发性疾病的健康婴儿，其临床表现各不相同，类似于肺炎和败血症等常见儿童疾病。其中四人表现出严重的心血管形式，称为脑型脚气病，伴有严重的肺动脉高压。对这六名婴儿中的四名给予经验性静脉注射硫胺素治疗，结果病情显著好转。了解婴儿脚气病的临床定义并给予经验性硫胺素治疗可以挽救生命。
