Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome: Case report

Anthony C. Wang, Joseph J. Gemm Ete, Catherine E. Keegan, Cordelie E. Witt, Karin M. Muraszko, Khoi Than, Cormac O. Maher

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)460-463
Number of pages4
JournalJournal of Neurosurgery: Pediatrics
Volume8
Issue number5
DOIs
StatePublished - Nov 2011
Externally publishedYes

Fingerprint

Ectromelia
Intracranial Hemorrhages
Intracranial Aneurysm
Angiography
Encephalocele
Inheritance Patterns
Cavernous Hemangioma
Microcephaly
Inborn Genetic Diseases
Craniotomy
Hydrocephalus
Emergencies
Hemorrhage

Keywords

  • Aneurysm
  • Congenital
  • Intracranial hemorrhage
  • Roberts syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery
  • Pediatrics, Perinatology, and Child Health

Cite this

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome : Case report. / Wang, Anthony C.; Gemm Ete, Joseph J.; Keegan, Catherine E.; Witt, Cordelie E.; Muraszko, Karin M.; Than, Khoi; Maher, Cormac O.

In: Journal of Neurosurgery: Pediatrics, Vol. 8, No. 5, 11.2011, p. 460-463.

Research output: Contribution to journalArticle

Wang, Anthony C. ; Gemm Ete, Joseph J. ; Keegan, Catherine E. ; Witt, Cordelie E. ; Muraszko, Karin M. ; Than, Khoi ; Maher, Cormac O. / Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome : Case report. In: Journal of Neurosurgery: Pediatrics. 2011 ; Vol. 8, No. 5. pp. 460-463.
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