Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.
Journal Article (Journal Article)
Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.
Full Text
Duke Authors
Cited Authors
- Wang, AC; Gemmete, JJ; Keegan, CE; Witt, CE; Muraszko, KM; Than, KD; Maher, CO
Published Date
- November 2011
Published In
Volume / Issue
- 8 / 5
Start / End Page
- 460 - 463
PubMed ID
- 22044369
Electronic International Standard Serial Number (EISSN)
- 1933-0715
Digital Object Identifier (DOI)
- 10.3171/2011.8.PEDS11117
Language
- eng
Conference Location
- United States