背景:Gillespie综合征是一种由ITPR1基因致病变异引起的罕见疾病,其特征是小脑共济失调的典型关联,双侧无虹膜和智力残疾。自1965年首次描述以来,已报道不到100名患者,只有30名患者得到分子确认。
方法:我们提供另外两个案例,两者都在Gly2539氨基酸残基中携带功能丧失变体。我们描述了患者的临床演变,其中一人现在17岁,并讨论该疾病的最新表型谱。
结果:该研究概述了病情,允许确认重要数据,例如发展的总体积极演变(有些患者没有出现智力障碍),神经系统体征的临床稳定性(无论小脑萎缩的可能进展如何)和眼部方面,一般健康合并症的患病率较低。
结论:关于中年患者的发育和观察数据支持Gillespie被认为是非进行性小脑共济失调的观点,使这个概念成为临床医生和治疗师的关键点,和家庭。
BACKGROUND: Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical association of cerebellar ataxia, bilateral aniridia and intellectual disability. Since its first description in 1965, less than 100 patients have been reported and only 30 with a molecular confirmation.
METHODS: We present two additional cases, both carrying a loss-of-function variant in the Gly2539 amino acid residue. We describe the clinical evolution of the patients, one of whom is now 17 years old, and discuss the updated phenotypic spectrum of the disorder.
RESULTS: The study gives an overview on the condition, allowing to confirm important data, such as an overall positive evolution of development (with some patient not presenting intellectual disability), a clinical stability of the neurological signs (regardless of a possible progression of cerebellar atrophy) and ocular aspects, and a low prevalence of general health comorbidities.
CONCLUSIONS: Data about development and the observation of middle-aged patients lend support to the view that Gillespie is to be considered a non-progressive cerebellar ataxia, making this concept a key point for both clinicians and therapists, and for the families.