Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.

Published

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

Pubmed Central 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