Department of Ophthalmology, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark.
Acta Ophthalmol. 2024 May;102(3):334-341. doi: 10.1111/aos.15745. Epub 2023 Aug 13.
To investigate ophthalmic onset manifestations and the impact of diagnostic delay on the prognosis in infants (<1 year) diagnosed with a brain tumour.
A retrospective population-based nationwide study of infants diagnosed with a brain tumour between 2007 and 2017 in Denmark. Data was retrieved from the Danish Childhood Cancer Registry, the National Danish Health registries, and medical files. Primary outcome measures included symptoms, clinical findings, time to diagnosis and survival.
Thirty-seven infants were diagnosed with a brain tumour in Denmark between 2007 and 2017. In total, 19/37 infants (51%, 95% CI: 34-68) had ophthalmic manifestations at any time prior to or at diagnosis; and in 6/37 (16%, 95% CI: 6-32) ophthalmic manifestations were the initial symptom. The most common ophthalmic manifestations were strabismus (n = 7), sunset eyes (n = 6), nystagmus (n = 4), reduced pupillary light reflex (n = 4), and/or decreased vision (n = 4). The median number of symptoms per infant at the time of diagnosis was three (range 0-9). The median diagnostic delay was 26 days (range 0-283, IQR: 6;90). 5-year survival rate was 75% (95% CI: 61-90) and all children with diagnostic delay > 100 days (n = 9, 24%) were still alive at the end of follow-up (median 6.3 years, range 2.2-10.2).
We provide an overview of symptoms and clinical signs in a nation-wide series of infants with CNS tumours and demonstrate that ophthalmic manifestations are frequently observed in infants prior to diagnosis, but, often in combination with other clinical signs. The diagnostic delay was substantial for a large part of the infants, but this was not associated with increased mortality.
研究眼部首发症状和诊断延迟对 2007 年至 2017 年间丹麦诊断为脑瘤的婴儿预后的影响。
这是一项基于人群的回顾性全国性研究，纳入了 2007 年至 2017 年期间在丹麦被诊断为脑瘤的婴儿。数据来自丹麦儿童癌症登记处、国家丹麦健康登记处和医疗档案。主要结局指标包括症状、临床发现、诊断时间和生存率。
2007 年至 2017 年期间，丹麦共有 37 名婴儿被诊断为脑瘤。共有 19/37（51%，95%CI：34-68）名婴儿在诊断前或诊断时出现眼部表现；6/37（16%，95%CI：6-32）名婴儿以眼部表现为首发症状。最常见的眼部表现包括斜视（n=7）、落日征（n=6）、眼球震颤（n=4）、瞳孔对光反射减弱（n=4）和/或视力下降（n=4）。诊断时每名婴儿的平均症状数为 3 个（范围 0-9）。中位诊断延迟时间为 26 天（范围 0-283，IQR：6；90）。5 年生存率为 75%（95%CI：61-90），所有诊断延迟超过 100 天的患儿（n=9，24%）在随访结束时仍存活（中位随访时间 6.3 年，范围 2.2-10.2）。
我们提供了一个全国性系列婴儿中枢神经系统肿瘤的症状和临床特征概述，并表明眼部表现常发生在婴儿诊断前，但常与其他临床体征同时出现。对于很大一部分婴儿来说，诊断延迟相当长，但这与死亡率的增加无关。
