Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations.

Bierman-Chow, Shaia; Freeman, Alexandra F.; Holland, Steven M.; Lynch, John; Cho, Hyun Joo

Parsing out the exact mechanisms underlying the elevated risk of aneurysms related to STAT1 GOF mutations will be critical in identifying patients most at risk and may inform interventions targeting aneurysm development. Patient 3 MRA showing diffuse aneurysms (D) We describe three patients with STAT1 GOF mutations with CMC who developed at least one cerebral aneurysm. Dear Sirs, Intracranial aneurysms are characterized by localized deterioration of the arterial wall [[1]] and can lead to subarachnoid hemorrhage. Despite hemicraniectomy and coil embolization, aneurysm had not been occluded completely by coil embolization and the patient died from subarachnoid hemorrhage at age 4 years and 2 months.

INTRACRANIAL aneurysms; GAIN-of-function mutations; TRANSIENT ischemic attack; CHILD patients; STAT proteins; INTRACRANIAL aneurysm ruptures; VASCULAR endothelial growth factors

Journal of Neurology, 2022, Vol 269, Issue 10, p5638

0340-5354

Academic Journal

10.1007/s00415-022-11131-w