Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.
Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.
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DOI：
10.1186/1471-2377-14-150
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发表时间：
2014-07-23
期刊：
影响因子：
2.6
通讯作者：
Matsuno A
中科院分区：
文献类型：
--
作者：
Hirohata T;Miyawaki S;Mizutani A;Iwakami T;Yamada S;Nishido H;Suzuki Y;Miyamoto S;Hoya K;Murakami M;Matsuno A
骨生成障碍（OI）是一组异质性遗传性疾病，由于1型胶原蛋白异常而发生，其特征在于骨脆性增加和其他骨外表现。我们报告的情况下，谁被诊断为OI后继发于蛛网膜下腔出血（SAH）破裂的囊状颅内动脉瘤（IA）的患者。一位37岁的女性因突发头痛和呕吐被转诊到我院。由于大脑中动脉动脉瘤，她被诊断为SAH（世界神经外科学会联合会2级）。然后，她成功地进行了动脉瘤夹闭手术。她有蓝色巩膜，四肢多次骨折史，以及她儿子的骨脆弱和蓝色巩膜家族史。根据这些发现，她被诊断出患有1型成骨不全症。我们对编码1型胶原α-2多肽的基因外显子28的单核苷酸G/C多态性（SNP）进行了遗传分析，这是IA的潜在危险因素。然而，在该患者或5名正常对照受试者中未检测到该SNP。其他遗传分析未发现COL 1A 1或COL 1A 2基因的任何突变。脑血管系统较少发生在OI中。由于血管内和血管周围的胶原蛋白缺乏，OI与血管虚弱增加有关。仅在6例病例中报告了继发于IA破裂伴OI的SAH。患者术后临床病程良好。IA是由OI引起的，还是IA与OI巧合地复杂化，仍然存在争议。
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders that occur owing to the abnormalities in type 1 collagen, and is characterized by increased bone fragility and other extraskeletal manifestations. We report the case of a patient who was diagnosed with OI following subarachnoid hemorrhage (SAH) secondary to a ruptured saccular intracranial aneurysm (IA). A 37-year-old woman was referred to our hospital because of sudden headache and vomiting. She was diagnosed with SAH (World Federation of Neurosurgical Society grade 2) owing to an aneurysm of the middle cerebral artery. She then underwent surgical clipping of the aneurysm successfully. She had blue sclerae, a history of several fractures of the extremities, and a family history of bone fragility and blue sclerae in her son. According to these findings, she was diagnosed with OI type 1. We performed genetic analysis for a single nucleotide G/C polymorphism (SNP) of exon 28 of the gene encoding for alpha-2 polypeptide of collagen 1, which is a potential risk factor for IA. However, this SNP was not detected in this patient or in five normal control subjects. Other genetic analyses did not reveal any mutations of the COL1A1 or COL1A2 gene. The cerebrovascular system is less frequently involved in OI. OI is associated with increased vascular weakness owing to collagen deficiency in and around the blood vessels. SAH secondary to a ruptured IA with OI has been reported in only six cases. The patient followed a good clinical course after surgery. It remains controversial whether IAs are caused by OI or IAs are coincidentally complicated with OI.
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DOI：
10.1097/01.paf.0000203150.95087.b6
发表时间：
2006-06-01
影响因子：
1
作者：
Havlik, DM;Nashelsky, MB
通讯作者：
Nashelsky, MB
影响因子：
2.9
作者：
Rouvière, S;Michelini, R;Pagès, M
通讯作者：
Pagès, M
影响因子：
8.3
作者：
Yoneyama, T;Kasuya, H;Inoue, I
通讯作者：
Inoue, I
影响因子：
14.9
作者：
Dalgleish, R
通讯作者：
Dalgleish, R
影响因子：
4
作者：
Cole, WG;Lam, TP
通讯作者：
Lam, TP