title: Ruptured intracranial aneurysm in patients with osteogenesis imperfecta: 2 familial cases and a systematic review of the literature.
abstract: OBJECTIVE
  Osteogenesis imperfecta is an inherited connective tissue disorder that causes bone fragility. Vascular complications have been described, but only few cases of ruptured intracranial aneurysm have been reported.
  
  
  METHODS
  We first described 2 familial cases of ruptured intracranial aneurysm and then conducted a systematic review of the literature.
  
  
  RESULTS
  A mother and her daughter with a typical history of osteogenesis imperfecta presented with subarachnoid hemorrhage, which was related to a posterior communicating artery aneurysm in both cases. The mother had early rebleeding and died. The aneurysm was excluded by coiling in the daughter. Despite occurrence of hydrocephalus and delayed cerebral ischemia, she had an excellent functional outcome. A systematic review of the literature identified seven additional cases. None of the cases were in fact familial. All patients had a previous medical history of multiple fractures. Seven aneurysms were resolved, three by surgical clipping and four by endovascular procedure. No periprocedural complication was reported. One patient died prematurely and 6 experienced good functional outcome.
  
  
  CONCLUSIONS
  We report the first familial cases of aneurysmal subarachnoid hemorrhage in osteogenesis imperfecta patients. Intracranial aneurysms are probably linked to a collagen pathology, which is at the origin of osteogenesis imperfecta. In cases of aneurysmal subarachnoid hemorrhage in an osteogenesis imperfecta family, intracranial aneurysm screenings in the relatives showing osteogenesis imperfecta should be considered.
authors.affiliation: Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France; Inserm, Inserm U919, serine protease and pathophysiology of the neurovascular unit, SP2U, UMR CNRS 6232, centre d'imagerie et de neurosciences appliquées aux pathologies, GIP Cyceron, university of Caen Lower Normandy, boulevard Henri-Becquerel, 14000 Caen, France. Electronic address: thomas.gaberel@hotmail.fr.
authors.forename: T
authors.initials: T
authors.lastname: Gaberel
authors.affiliation: Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France.
authors.forename: A
authors.initials: A
authors.lastname: Rochey
authors.affiliation: Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France; Inserm, Inserm U919, serine protease and pathophysiology of the neurovascular unit, SP2U, UMR CNRS 6232, centre d'imagerie et de neurosciences appliquées aux pathologies, GIP Cyceron, university of Caen Lower Normandy, boulevard Henri-Becquerel, 14000 Caen, France.
authors.forename: C
authors.initials: C
authors.lastname: di Palma
authors.affiliation: Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France.
authors.forename: F
authors.initials: F
authors.lastname: Lucas
authors.affiliation: Inserm, Inserm U919, serine protease and pathophysiology of the neurovascular unit, SP2U, UMR CNRS 6232, centre d'imagerie et de neurosciences appliquées aux pathologies, GIP Cyceron, university of Caen Lower Normandy, boulevard Henri-Becquerel, 14000 Caen, France; Department of neurology, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France.
authors.forename: E
authors.initials: E
authors.lastname: Touze
authors.affiliation: Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France; Inserm, Inserm U919, serine protease and pathophysiology of the neurovascular unit, SP2U, UMR CNRS 6232, centre d'imagerie et de neurosciences appliquées aux pathologies, GIP Cyceron, university of Caen Lower Normandy, boulevard Henri-Becquerel, 14000 Caen, France.
authors.forename: E
authors.initials: E
authors.lastname: Emery
mesh_terms: D017542:Aneurysm, Ruptured / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D002533:Cerebral Angiography; D000072226:Computed Tomography Angiography; D004621:Embolization, Therapeutic; D005192:Family Health; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000601:surgery; D002532:Intracranial Aneurysm / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000235:genetics; D012422:Rupture, Spontaneous; D017287:Ventriculoperitoneal Shunt
keywords: Endovascular procedure; Intracranial aneurysm; Microsurgery; Osteogenesis imperfecta; Subarachnoid hemorrhage