斯蒂克勒综合征患儿伴发格雷夫斯病，一种新的内分泌发现可改善个体化治疗。
Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
机构信息
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Division of Pediatric, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
出版信息
Ital J Pediatr. 2020 Dec 1;46(1):178. doi: 10.1186/s13052-020-00945-x.
BACKGROUND
Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, auditory and joint involvement. Thyroid dysfunction was not described as part of alterations in Stickler syndrome and in particular, the association between Stickler's syndrome and Graves' disease has never been previously reported in literature. Moreover, the presence of Graves' disease is uncommon in the pediatric age (especially in children younger than 6 years old).
CASE PRESENTATION
We report the case of a 5-years old child affected by Stickler syndrome who received the diagnosis of Graves's disease, in absence of suggestive symptoms, during health supervision.
CONCLUSIONS
This is the first evidence of thyroid dysfunction and autoimmune pattern for Sticker syndrome. Further clinical reports are expected before suggesting the implementation of new clinical skills for Stickler syndrome, but this paper may contribute to improve personalized management of this rare disorder.
背景
斯特格氏综合征是一种主要呈常染色体显性遗传的结缔组织疾病，眼部、耳部和关节均受影响。甲状腺功能障碍并未被描述为斯特格氏综合征改变的一部分，特别是斯特格氏综合征和格雷夫斯病之间的关联以前从未在文献中报道过。此外，格雷夫斯病在儿科中并不常见（尤其是在 6 岁以下的儿童中）。
病例介绍
我们报告了一例 5 岁患有斯特格氏综合征的儿童，在健康检查中，在没有提示症状的情况下被诊断为格雷夫斯病。
结论
这是首例斯特格氏综合征甲状腺功能障碍和自身免疫模式的证据。在建议为斯特格氏综合征实施新的临床技能之前，预计会有更多的临床报告，但本文可能有助于改善对这种罕见疾病的个体化管理。
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