Cerebrovascular diseases in two patients with entire NSD1 deletion.

ABSTRACT: 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.

SUBMITTER: Itai T 

PROVIDER: S-EPMC8144564 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature