Department of Pediatric Pulmonology, Mofid Pediatrics Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
J Med Case Rep. 2022 May 12;16(1):188. doi: 10.1186/s13256-022-03410-x.
Respiratory and gastrointestinal manifestations are the main causes of mortality and morbidity in cystic fibrosis. Although these symptoms are well recognized, ophthalmic involvement of cystic fibrosis secondary to vitamin A deficiency is uncommon and has been reported very rarely in the medical literature.
Here, we report a 2.5-year-old Iranian boy who presented with bilateral corneal xerosis and corneal opacity secondary to vitamin A deficiency related to cystic fibrosis malabsorption.
Malabsorption of fat-soluble vitamins is a common presentation in cystic fibrosis, but corneal opacity secondary to vitamin A deficiency as the initial presentation of cystic fibrosis is a very rare manifestation of fat malabsorption. This highlights the importance of complete systemic examination besides ophthalmic examination in approaching a child with ophthalmic complaint.
呼吸和胃肠道表现是囊性纤维化患者死亡和发病的主要原因。尽管这些症状已经得到广泛认识，但囊性纤维化继发于维生素 A 缺乏的眼部受累并不常见，在医学文献中也很少有报道。
这里，我们报告了一名 2.5 岁的伊朗男孩，因囊性纤维化吸收不良导致维生素 A 缺乏，出现双眼角结膜干燥症和角膜混浊。
脂溶性维生素吸收不良是囊性纤维化的常见表现，但维生素 A 缺乏引起的角膜混浊作为囊性纤维化的初始表现是脂肪吸收不良的一种非常罕见的表现。这凸显了在对有眼部不适的患儿进行诊疗时，除眼部检查外，进行全面系统检查的重要性。
