Large saccular intracranial aneurysm in a child with RASA1-associated capillary malformation-arteriovenous malformation syndrome: illustrative case.
J Neurosurg Case Lessons
; 6(9)2023 Aug 28.
Article
in En
| MEDLINE
| ID: mdl-37728320
ABSTRACT
BACKGROUND:
Large cerebral aneurysms are much less common in children than in adults. Thus, when present, these lesions require careful surgical evaluation and comprehensive genetic testing. RASA1-associated capillary malformation-arteriovenous malformation (RASA1-CM-AVM) syndrome is a rare disorder of angiogenic remodeling known to cause port-wine stains and arteriovenous fistulas but not previously associated with pediatric aneurysms. OBSERVATIONS The authors report the case of a previously healthy 6-year-old boy who presented with seizure-like activity. Imaging demonstrated a lesion in the right ambient cistern with compression of the temporal lobe. Imaging characteristics were suggestive of a thrombosed aneurysm versus an epidermoid cyst. The patient underwent craniotomy, revealing a large saccular aneurysm, and clip ligation and excision were performed. Postoperative genetic analysis revealed a RASA1-CM-AVM syndrome. LESSONS This is a rare case of a RASA1-associated pediatric cerebral aneurysm in the neurosurgical literature. This unique case highlights the need for maintaining a broad differential diagnosis as well as the utility of genetic testing for detecting underlying genetic syndromes in young children presenting with cerebral aneurysms.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Risk_factors_studies
Language:
En
Journal:
J Neurosurg Case Lessons
Year:
2023
Document type:
Article