Neonatal Aneurysm Rupture in a Child with a De Novo Variant to ANKRD17

Ankyrin repeat domain 17 (ANKRD17) is postulated to play a role in the integrity of blood vessels and has been reported to be associated with developmental delays, epilepsy, and growth restriction. Whereas ANKRD17-deficient mice have been demonstrated to experience catastrophic hemorrhages, vascular...

Full description

Saved in:
Bibliographic Details
Published inChild neurology open Vol. 9
Main Authors Silverstein, Rebecca, Kuwabara, Michael, Appavu, Brian
Format Journal Article
LanguageEnglish
Published Los Angeles, CA SAGE Publications 01.01.2022
Sage Publications Ltd
Subjects
Aneurysm
Ankyrins
Blood vessels
Case Report
Drug resistance
Epilepsy
Neonates
Seizures
Subarachnoid hemorrhage
ANKRD17
epilepsy
aneurysm
cerebrovascular malformation
neonate
Online AccessGet full text

Cover

More Information
Summary:Ankyrin repeat domain 17 (ANKRD17) is postulated to play a role in the integrity of blood vessels and has been reported to be associated with developmental delays, epilepsy, and growth restriction. Whereas ANKRD17-deficient mice have been demonstrated to experience catastrophic hemorrhages, vascular malformations have not been reported in human patients with pathogenic variants to ANKRD17. We report a term male neonate with a heterozygous de novo variant to ANKRD17 (ANKRD17; c6988 C > G, P.[P2330a]) who experienced subarachnoid hemorrhage from a ruptured aneurysm involving the left middle cerebral artery. He experienced acute symptomatic seizures and required clipping of his aneurysm at 35 days of life, later progressing to developing multifocal drug-resistant epilepsy. To our knowledge, this case represents the first report of a cerebrovascular malformation from a patient with ANKRD17. Further work is needed to investigate whether pathogenic variants to ANKRD17 can lead to cerebral aneurysms or other cerebrovascular malformations in children.
ISSN:2329-048X
2329-048X
DOI:10.1177/2329048X221134600