Ruptured intracranial aneurysm in patients with osteogenesis imperfecta: 2 familial cases and a systematic review of the literature

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• 作者：T. Gaberel^a ; ^b ; ^{thomas.gaberel@hotmail.fr} ; A. Rochey^a ; C. di Palma^a ; ^b ; F. Lucas^a ; E. Touze^b ; ^c ; E. Emery^a ; ^b
• 关键词：Microsurgery ; Endovascular procedure ; Osteogenesis imperfecta ; Intracranial aneurysm ; Subarachnoid hemorrhage
• 刊名：Neurochirurgie
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：62
• 期：6
• 页码：317-320
• 全文大小：578 K
• 卷排序：62

文摘

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.Materials and methodsWe first described 2 familial cases of ruptured intracranial aneurysm and then conducted a systematic review of the literature.ResultsA 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.ConclusionsWe 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.