title: Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.
abstract: 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.
authors: Departments of Neurosurgery, University of Michigan, Ann Arbor, Michigan, USA.
authors: Anthony C
authors: AC
authors: Wang
authors: Joseph J
authors: JJ
authors: Gemmete
authors: Catherine E
authors: CE
authors: Keegan
authors: Cordelie E
authors: CE
authors: Witt
authors: Karin M
authors: KM
authors: Muraszko
authors: Khoi D
authors: KD
authors: Than
authors: Cormac O
authors: CO
authors: Maher
mesh_terms: D002533:Cerebral Angiography; D002543:Cerebral Hemorrhage / Q000150:complications* / Q000473:pathology / Q000601:surgery; D002648:Child; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000473:pathology / Q000601:surgery; D004480:Ectromelia / Q000150:complications* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000473:pathology / Q000601:surgery; D002532:Intracranial Aneurysm / Q000150:complications* / Q000473:pathology / Q000601:surgery; D018810:Magnetic Resonance Angiography; D019635:Neurosurgical Procedures; D011184:Postoperative Period; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014711:Vertebral Artery / Q000473:pathology