Document Detail

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.
MedLine Citation:
PMID:  22044369     Owner:  NLM     Status:  In-Data-Review    
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.
Anthony C Wang; Joseph J Gemmete; Catherine E Keegan; Cordelie E Witt; Karin M Muraszko; Khoi D Than; Cormac O Maher
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of neurosurgery. Pediatrics     Volume:  8     ISSN:  1933-0715     ISO Abbreviation:  J Neurosurg Pediatr     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-11-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101463759     Medline TA:  J Neurosurg Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  460-3     Citation Subset:  IM    
Departments of Neurosurgery.
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