Moulin P, Cinq-Frais C, Gangloff C, Peyre M, Seguela P-E, Charpentier S, Cascarigny F, Alcouffe F, Periquet B, Dulac Y, Acar P
Service de pédiatrie-néonatologie, centre hospitalier de Montauban, 100, rue Léon-Cladel, 82013 Montauban cedex, France.
Laboratoire de biochimie de la nutrition, centre hospitalier universitaire de Rangueil, avenue Jean-Poulhès, 31059 Toulouse cedex, France.
Arch Pediatr. 2014 Apr;21(4):392-5. doi: 10.1016/j.arcped.2014.01.009. Epub 2014 Mar 11.
Thiamine deficiency is recognized in varied parts of the world. In Asia, it remains an important public health problem where highly polished rice is the major staple food and where other primary dietary sources of thiamine are in short supply. Beriberi, or clinically apparent thiamine deficiency, may present a variety of syndromes including myocardial dysfunction or wet beriberi, dry beriberi with neurological symptoms, and the more severe form Shoshin beriberi with cardiac failure and lactic acidosis. Infantile thiamine deficiency is a very rare condition in developed countries today. It occurs mainly in breastfed infants of mothers who have inadequate intake of thiamine. Clinical symptoms in such infants include gastrointestinal symptoms, cardiac failure, and lactic acidosis. We report the case of a 10-week-old girl, admitted with diarrhea, vomiting, acidosis, and cardiac failure. After excluding other etiologies of cardiomyopathy, biochemical thiamine deficiency confirmed the diagnosis of beriberi in an infant of a thiamine-deficient mother from Reunion Island, a French island where recently, with Mayotte Island, epidemic cases of beriberi have been described. This case is important to highlight the manifestations in young infants and to alert physicians to the possibility of thiamine deficiency in developed countries.
硫胺素缺乏在世界不同地区都有发现。在亚洲,它仍然是一个重要的公共卫生问题,在那里高度精制的大米是主要主食,而硫胺素的其他主要膳食来源供应短缺。脚气病,即临床上明显的硫胺素缺乏症,可能表现出多种综合征,包括心肌功能障碍或湿性脚气病、伴有神经症状的干性脚气病,以及更严重的暴发性脚气病伴有心力衰竭和乳酸性酸中毒。在当今发达国家,婴儿硫胺素缺乏是一种非常罕见的病症。它主要发生在硫胺素摄入不足的母亲所母乳喂养的婴儿中。此类婴儿的临床症状包括胃肠道症状、心力衰竭和乳酸性酸中毒。我们报告了一名10周大女孩的病例,她因腹泻、呕吐、酸中毒和心力衰竭入院。在排除心肌病的其他病因后,生化检查发现硫胺素缺乏确诊了一名来自留尼汪岛(一个法国岛屿,最近与马约特岛一起报道了脚气病的流行病例)硫胺素缺乏母亲所生婴儿的脚气病。该病例对于突出幼儿期的表现以及提醒发达国家的医生注意硫胺素缺乏的可能性很重要。