儿童威尔逊氏病与太田痣：一例报告
Wilson's Disease and Nevus of Ota in a Child: A Case Report.
作者信息
Nemet Achia, Hacker Itai, Topf-Olivestone Chani, Svirsky Ran, Pikkel Joseph, Kinori Michael
机构信息
Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er-Sheva, Israel.
Department of Ophthalmology, Samson Assuta Medical Center Ashdod, Ashdod, Israel.
出版信息
Case Rep Ophthalmol. 2024 Oct 10;15(1):724-728. doi: 10.1159/000541119. eCollection 2024 Jan-Dec.
INTRODUCTION
Wilson's disease is a rare autosomal recessive disorder that disrupts copper metabolism. It presents with distinctive ocular manifestations. Oculodermal melanosis, commonly referred to as nevus of Ota, is a painless condition characterized by hyperpigmentation in and around the eye. In this case report, we describe the unique occurrence of both conditions in this pediatric patient.
CASE PRESENTATION
A 10-year-old girl exhibited classic ocular signs associated with Wilson's disease, including Kayser-Fleischer rings and sunflower-type cataracts. Additionally, she displayed unilateral confluent gray-blue hyperpigmentation consistent with a nevus of Ota. As of now, the patient remains asymptomatic, with preserved visual acuity.
CONCLUSIONS
To the best of our knowledge, this case represents the first report of nevus of Ota in a child diagnosed with Wilson's disease.
引言
威尔逊氏病是一种罕见的常染色体隐性疾病，会扰乱铜代谢。它会出现独特的眼部表现。眼皮肤黑素沉着症，通常称为太田痣，是一种无痛病症，其特征是眼睛及其周围色素沉着。在本病例报告中，我们描述了该儿科患者同时出现这两种病症的独特情况。
病例介绍
一名10岁女孩表现出与威尔逊氏病相关的典型眼部体征，包括凯-弗环和向日葵型白内障。此外，她还表现出与太田痣一致的单侧融合性灰蓝色色素沉着。截至目前，该患者仍无症状，视力保持正常。
结论
据我们所知，本病例是首例被诊断为威尔逊氏病的儿童患有太田痣的报告。
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