Levy J, DeFelice A, Lepage G
Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, New York.
J Pediatr Gastroenterol Nutr. 1990 Feb;10(2):242-5. doi: 10.1097/00005176-199002000-00017.
Essential fatty acid deficiency was documented in a 3-year-old boy with chronic cholestasis secondary to paucity of intrahepatic bile ducts (Alagille's syndrome). Dietary management had consisted almost exclusively of a proprietary formula with over 80% of the fat as medium-chain triglycerides. The bullous lesions involved mostly sun-exposed areas and were diagnosed initially as being compatible with acquired porphyria cutanea tarda. Improvement followed correction of the fatty acid abnormalities with a polyunsaturated fat supplement administered orally. We postulate that the association of fatty acid deficiency and abnormal vitamin E status contributed to skin damage, possibly involving photosensitizing compounds poorly cleared by the markedly cholestatic liver.
一名3岁男孩因肝内胆管稀少（阿拉吉耶综合征）继发慢性胆汁淤积，被诊断为必需脂肪酸缺乏。饮食管理几乎完全依赖于一种专利配方奶粉，其中80%以上的脂肪为中链甘油三酯。大疱性皮损主要累及暴露于阳光的部位，最初被诊断为符合迟发性皮肤卟啉病。口服多不饱和脂肪补充剂纠正脂肪酸异常后病情有所改善。我们推测，脂肪酸缺乏与维生素E状态异常共同导致了皮肤损伤，可能涉及胆汁淤积明显的肝脏清除不佳的光敏化合物。
