Background

Down syndrome regression disorder (DSRD) is characterized by the sudden loss of adaptive function, cognitive-executive function, and language with abnormal sleep and/or motor control.

Methods

Clinical, laboratory, and imaging data from three individuals with DSRD and iron on brain imaging were reviewed.

Results

Three patients with Down syndrome presented with new onset of flat affect, depression, reduced speech, and other neurological symptoms consistent with DSRD. Magnetic resonance imaging showed abnormal iron accumulation in the basal ganglia, as well as calcification in two cases. Molecular diagnostic testing for neurodegeneration with brain iron accumulation was negative in the two individuals tested.

Conclusions

These individuals presented suggest that a subset of individuals with DSRD have abnormal brain iron accumulation. Motor control symptoms reported in DSRD, such as stereotypies and parkinsonism, may reflect this basal ganglia involvement. The presence of abnormal brain iron should not delay or preclude diagnosis and treatment for DSRD.

中文翻译：

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异常的脑铁积累是唐氏综合症退化障碍的罕见发现

背景

唐氏综合症退化障碍 (DSRD) 的特征是适应功能、认知执行功能和语言的突然丧失以及睡眠和/或运动控制异常。

方法

审查了三个患有 DSRD 和脑成像铁的个体的临床、实验室和成像数据。

结果

三名患有唐氏综合症的患者出现了新的情绪低落、抑郁、言语减少和其他与 DSRD 一致的神经系统症状。磁共振成像显示基底神经节铁异常积聚，2例钙化。在接受测试的两个人中，对神经变性伴脑铁积聚的分子诊断测试呈阴性。

结论

所呈现的这些个体表明，一部分患有 DSRD 的个体具有异常的脑铁积累。DSRD 中报告的运动控制症状，例如刻板印象和帕金森症，可能反映了这种基底神经节受累。异常脑铁的存在不应延迟或排除 DSRD 的诊断和治疗。