METHODS: A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years. Trio-based genome sequencing tests were performed on the patient and her biological parents.
RESULTS: The infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow-up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C>T, p.Thr267Met missense mutation in the ITPR1 gene (NM_001378452.1).
CONCLUSIONS: This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1-related ataxias. Our case highlights the importance of recognizing early-onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.
方法:一名韩国女婴,显示SCA29的临床特征,从3个月至目前的4岁在我们的门诊接受了评估和康复.对患者及其亲生父母进行基于三重奏的基因组测序测试。
结果:婴儿最初表现为大头畸形,低张力,和眼球震颤,在初始神经影像学上有非特异性发现。随后的随访显示运动严重延迟,早发性共济失调,斜视,和认知障碍。进一步的神经影像学显示小脑和疣萎缩,遗传分析显示从头致病杂合c.800C>T,ITPR1基因中的p.Thr267Met错义突变(NM_001378452.1)。
结论:这是韩国首例SCA29病例,扩大ITPR1相关共济失调的遗传和表型谱。我们的案例强调了识别早发性共济失调症状的重要性,中枢低张力,和肉眼固定不良的运动延迟,认知缺陷,和孤立性小脑萎缩是SCA29的关键临床指标。