伴有唐氏综合症和甲状腺功能减退的儿童角膜扩张、青色(蓝点)白内障伴急性积液-罕见的表现。

Bharat Gurnani, Kirandeep Kaur, Shivanand Narayana
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摘要

唐氏综合症或21三体是一种遗传疾病,由21号染色体的全部或部分第三个拷贝引起。高达15%的成年唐氏综合症患者会出现圆锥角膜。21三体与圆锥角膜(一种圆锥状膨胀性角膜突出)密切相关,唐氏综合征儿童也容易发生甲状腺疾病,包括甲状腺功能减退症和甲状腺毒症伴突出眼。作者描述了一个病例报告急性角膜积液与先天性青色白内障在唐氏综合症与甲状腺功能减退患者有双侧晚期圆锥角膜。根据详细的文献综述,这是第一例唐氏综合症合并甲状腺功能减退,表现为急性角膜积液。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Corneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation.

Down's syndrome or trisomy 21 is a genetic disorder caused by presence of all or a part of a third copy of chromosome 21. Keratoconus occurs in up to 15% of the adult population with Down's syndrome. There is a close consortium between trisomy 21 and keratoconus (a conical ectatic protrusion of the cornea), and children with Down's syndrome are also susceptible to developing thyroid disease, including hypothyroidism and thyrotoxicosis with exophthalmos. The authors describe a case report on acute corneal hydrops with congenital cerulean cataract in a patient with Down's syndrome with hypothyroidism having bilateral advanced keratoconus. As per the detailed literature review, this is the first case of Down's syndrome with hypothyroidism presenting with acute corneal hydrops.

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