論文

査読有り
2014年7月

Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report

BMC NEUROLOGY
  • Toshio Hirohata
  • ,
  • Satoru Miyawaki
  • ,
  • Akiko Mizutani
  • ,
  • Takayuki Iwakami
  • ,
  • So Yamada
  • ,
  • Hajime Nishido
  • ,
  • Yasutaka Suzuki
  • ,
  • Shinya Miyamoto
  • ,
  • Katsumi Hoya
  • ,
  • Mineko Murakami
  • ,
  • Akira Matsuno

14
開始ページ
150
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1186/1471-2377-14-150
出版者・発行元
BIOMED CENTRAL LTD

Background: 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).
Case Presentation: 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.
Conclusion: 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.

Web of Science ® 被引用回数 : 6

リンク情報
DOI
https://doi.org/10.1186/1471-2377-14-150
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/25056440
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000340641500001&DestApp=WOS_CPL

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