We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.

中文翻译：

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两名 NSD1 完全缺失患者的脑血管疾病

我们描述了两名患有NSD1缺失的患者，他们患有早发性或复发性脑血管疾病 (CVD)。一名 39 岁女性在婴儿期表现出发育迟缓和步态异常，并发展为缓慢进展的智力残疾和运动障碍。脑成像提示复发性脑实质出血。一名 6 岁男性在新生儿时出现震颤，脑成像显示硬膜下血肿和脑挫伤。该报告表明可能涉及与NSD1缺失相关的心血管疾病。