Matsusue S, Kashihara S, Takeda H, Koizumi S
JPEN J Parenter Enteral Nutr. 1985 Nov-Dec;9(6):760-3. doi: 10.1177/0148607185009006760.
We report a case of biotin deficiency developed in a 25-yr-old man with Crohn's disease who had been on total parenteral nutrition for more than 9 months. His cutaneous, ophthalmic, and neurologic manifestations were characteristic of this disease entity described in literature. In particular, the appearance of his face deserves to be called "biotin deficiency facies." After administration of biotin the low plasma nonesterified fatty acid level promptly returned to normal. This phenomenon may prove to serve as a convenient means for the purpose of detecting biotin deficiency.
我们报告一例25岁患有克罗恩病的男性发生生物素缺乏的病例,该患者接受全肠外营养已超过9个月。他的皮肤、眼部和神经学表现符合文献中描述的该疾病实体特征。特别是,他的面部外观堪称“生物素缺乏面容”。给予生物素后,血浆中非酯化脂肪酸水平迅速恢复正常。这一现象可能被证明是检测生物素缺乏的一种便捷方法。