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

J Neurosurg Pediatr. 2011 Nov;8(5):460-3. doi: 10.3171/2011.8.PEDS11117.

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.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Angiography
  • Cerebral Hemorrhage / complications*
  • Cerebral Hemorrhage / pathology
  • Cerebral Hemorrhage / surgery
  • Child
  • Craniofacial Abnormalities / complications*
  • Craniofacial Abnormalities / pathology
  • Craniofacial Abnormalities / surgery
  • Ectromelia / complications*
  • Ectromelia / pathology
  • Ectromelia / surgery
  • Female
  • Humans
  • Hypertelorism / complications*
  • Hypertelorism / pathology
  • Hypertelorism / surgery
  • Intracranial Aneurysm / complications*
  • Intracranial Aneurysm / pathology
  • Intracranial Aneurysm / surgery
  • Magnetic Resonance Angiography
  • Neurosurgical Procedures
  • Postoperative Period
  • Syndrome
  • Tomography, X-Ray Computed
  • Vertebral Artery / pathology

Supplementary concepts

  • Roberts Syndrome