Gaberel T, Rochey A, di Palma C, Lucas F, Touze E, Emery E
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.
Department of neurosurgery, university hospital of Caen, avenue de la Côte-de-Nacre, 14000 Caen, France.
Neurochirurgie. 2016 Dec;62(6):317-320. doi: 10.1016/j.neuchi.2016.07.004. Epub 2016 Oct 26.
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.
We first described 2 familial cases of ruptured intracranial aneurysm and then conducted a systematic review of the literature.
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.
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.
成骨不全是一种遗传性结缔组织疾病，可导致骨骼脆弱。血管并发症已有报道，但颅内动脉瘤破裂的病例仅有少数报告。
我们首先描述了2例家族性颅内动脉瘤破裂病例，然后对文献进行了系统回顾。
一位母亲和她患有典型成骨不全病史的女儿出现蛛网膜下腔出血，两例均与后交通动脉瘤有关。母亲早期再次出血并死亡。女儿的动脉瘤通过栓塞排除。尽管出现了脑积水和迟发性脑缺血，但她的功能预后良好。对文献的系统回顾又发现了另外7例病例。事实上，这些病例均非家族性。所有患者既往均有多次骨折病史。7个动脉瘤得到解决，3个通过手术夹闭，4个通过血管内介入治疗。未报告围手术期并发症。1例患者过早死亡，6例功能预后良好。
我们报告了首例成骨不全患者动脉瘤性蛛网膜下腔出血的家族性病例。颅内动脉瘤可能与胶原蛋白病变有关，而胶原蛋白病变是成骨不全的病因。在成骨不全家族中出现动脉瘤性蛛网膜下腔出血的情况下，应考虑对患有成骨不全的亲属进行颅内动脉瘤筛查。
