Maharaj A, Singh V Rs, Lalchan S A
Faculty of Medical Sciences, The University of the West Indies, St Augustine, Trinidad and Tobago.
Lily - The Eye Specialist Limited, Ankavilla Building, #8 Endeavour Road, Chaguanas, Trinidad and Tobago.
West Indian Med J. 2014 Dec;63(7):799-802. doi: 10.7727/wimj.2013.323. Epub 2014 Sep 4.
Neurofibromatosis 1 is the commonest neurocutaneous autosomal dominant disorder with full penetrance, although expression may not be complete by the age of five years. Lisch nodules, however, are predominantly visible in children usually after the age of six years. Therefore, it is important to appreciate that their absence before this age does not pre-empt the diagnosis. A child being treated for hypertension of unknown aetiology with cafe au lait lesions presented to the ophthalmologist with blurred vision. Clinical examination revealed Lisch nodules which confirmed the suspicion of neurofibromatosis 1 as per National Institutes of Health criteria. The aim of this report is to highlight the importance of regular ophthalmic screening, both in suspected and confirmed cases, as these patients have long-term sequelae.
神经纤维瘤病1型是最常见的具有完全外显率的常染色体显性神经皮肤疾病，尽管在5岁时其表现可能不完全。然而，Lisch结节通常在6岁以后的儿童中更易见到。因此，必须认识到在这个年龄之前没有Lisch结节并不排除诊断。一名因不明病因高血压接受治疗且有咖啡斑皮损的儿童因视力模糊就诊于眼科医生。临床检查发现了Lisch结节，根据美国国立卫生研究院的标准证实了对神经纤维瘤病1型的怀疑。本报告的目的是强调在疑似和确诊病例中定期进行眼科筛查的重要性，因为这些患者有长期后遗症。
