Suzuki Ryutaro, Yoshizawa Shinsuke, Kambe Tomoka, Negishi Takashi, Ohashi Kensuke, Nakao Shintaro
Department of Ophthalmology, Saitama Children's Medical Center, Saitama, JPN.
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, JPN.
Cureus. 2025 Jun 5;17(6):e85443. doi: 10.7759/cureus.85443. eCollection 2025 Jun.
Vitamin A deficiency (VAD) is a nutritional disorder that is predominantly observed in developing countries due to malnutrition. However, it can also occur in developed countries, particularly in children with neurodevelopmental disorders associated with avoidant and restrictive food intake disorder (ARFID) or malabsorption. The clinical manifestations of VAD include ocular complications, such as night blindness, xerophthalmia, and keratomalacia, as well as systemic effects, including impaired immunity, growth retardation, and increased susceptibility to infections. While there has been notable attention on the association between VAD and urinary tract infections, reports detailing their coexistence are limited. This report presents two pediatric cases of VAD in children with neurodevelopmental disorders who exhibited ocular and urinary tract symptoms. The first case involves a nine-year-old male patient who presented with progressive visual impairment, photophobia, and a medical history of urethral stenosis. A detailed examination revealed severe visual acuity loss, diffuse keratitis, optic nerve pallor, and keratin deposits in the bladder. The second case pertains to a six-year-old male patient who exhibited symptoms such as photophobia, recurrent urinary tract infections, and urethral keratosis. Upon examination, corneal leukoplakia and peripheral opacity were observed. A history of selective eating was observed in both patients, and serum vitamin A levels were used to confirm the diagnosis of VAD. Treatment with vitamin A and zinc resulted in significant improvement in ocular and urinary symptoms. Photophobia exhibited a marked improvement in both cases, although visual acuity recovery was limited in Case 1. These cases underscore the gravity of VAD, a condition that, though rare in developed countries, can manifest with severe and diverse symptoms, particularly in children with developmental disorders. The underlying mechanisms involve epithelial keratinization and immune dysfunction, which increase infection susceptibility. Early recognition and interdisciplinary collaboration are crucial for timely diagnosis and management. Clinicians are advised to consider VAD in patients presenting with ocular or systemic symptoms, particularly when urinary tract infections and dietary insufficiencies are concurrently present. These findings underscore the necessity of a multidisciplinary approach to address VAD, ensuring enhanced outcomes and the prevention of complications.
维生素A缺乏症(VAD)是一种主要在发展中国家因营养不良而观察到的营养失调症。然而,它也可能发生在发达国家,特别是在患有与回避性和限制性食物摄入障碍(ARFID)或吸收不良相关的神经发育障碍的儿童中。VAD的临床表现包括眼部并发症,如夜盲症、干眼症和角膜软化症,以及全身影响,包括免疫功能受损、生长发育迟缓以及对感染的易感性增加。虽然VAD与尿路感染之间的关联已受到显著关注,但详细描述它们共存情况的报告有限。本报告介绍了两例患有神经发育障碍的儿童VAD病例,这些儿童表现出眼部和泌尿系统症状。第一例病例是一名9岁男性患者,表现为进行性视力损害、畏光,并有尿道狭窄病史。详细检查发现严重视力丧失、弥漫性角膜炎、视神经苍白以及膀胱内有角质沉积。第二例病例是一名6岁男性患者,表现出畏光、复发性尿路感染和尿道角化症等症状。检查时,观察到角膜白斑和周边混浊。两名患者均有选择性进食史,并通过血清维生素A水平确诊为VAD。维生素A和锌治疗使眼部和泌尿系统症状有显著改善。两例病例中的畏光症状均有明显改善,尽管病例1的视力恢复有限。这些病例强调了VAD的严重性,这种情况在发达国家虽然罕见,但可能表现出严重且多样的症状,特别是在患有发育障碍的儿童中。潜在机制涉及上皮角质化和免疫功能障碍,这会增加感染易感性。早期识别和跨学科合作对于及时诊断和管理至关重要。建议临床医生在出现眼部或全身症状的患者中考虑VAD,特别是当同时存在尿路感染和饮食不足时。这些发现强调了采用多学科方法解决VAD的必要性,以确保改善治疗效果并预防并发症。