Literature DB >> 22674700

Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man.

Chandrasekaran Kaliaperumal1, Tom Walsh, Chandramouli Balasubramanian, Gerry Wyse, Noel Fanning, George Kaar.   

Abstract

The authors describe a case of aneurysmal subarachnoid haemorrhage in a 53-year-old man with background of osteogenesis imperfecta (OI). CT brain revealed diffuse subarachnoid haemorrhage (SAH) and cerebral angiogram subsequently confirmed vertebral artery aneurysm rupture leading to SAH. To the authors knowledge this is the first case of vertebral artery aneurysmal SAH described in OI. A previously undiagnosed OI was confirmed by genetic analysis (COL1A1 gene mutation). This aneurysm was successfully treated by endovascular route. Post interventional treatment patient developed stroke secondary to vasospasm. Communicating hydrocephalus, which developed in the process of management, was successfully treated with ventriculo-peritoneal shunt. The aetio-pathogenesis and management of this condition is described. The authors have reviewed the literature and genetic basis of this disease.

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Year:  2011        PMID: 22674700      PMCID: PMC3229403          DOI: 10.1136/bcr.10.2011.4910

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  11 in total

1.  Inflammation and intracranial aneurysms.

Authors:  D Chyatte; G Bruno; S Desai; D R Todor
Journal:  Neurosurgery       Date:  1999-11       Impact factor: 4.654

2.  Structural fragility and inflammatory response of ruptured cerebral aneurysms. A comparative study between ruptured and unruptured cerebral aneurysms.

Authors:  K Kataoka; M Taneda; T Asai; A Kinoshita; M Ito; R Kuroda
Journal:  Stroke       Date:  1999-07       Impact factor: 7.914

3.  Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype.

Authors:  Oliver Semler; Moira S Cheung; Francis H Glorieux; Frank Rauch
Journal:  Am J Med Genet A       Date:  2010-07       Impact factor: 2.802

Review 4.  Altered arterial homeostasis and cerebral aneurysms: a review of the literature and justification for a search of molecular biomarkers.

Authors:  Amin Kassam; Michael Horowitz; Yue-Fang Chang; David Peters
Journal:  Neurosurgery       Date:  2004-05       Impact factor: 4.654

5.  Reduced collagen biosynthesis is the hallmark of cerebral aneurysm: contribution of interleukin-1beta and nuclear factor-kappaB.

Authors:  Tomohiro Aoki; Hiroharu Kataoka; Ryota Ishibashi; Kazuhiko Nozaki; Ryuuichi Morishita; Nobuo Hashimoto
Journal:  Arterioscler Thromb Vasc Biol       Date:  2009-04-09       Impact factor: 8.311

6.  Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms.

Authors:  Hiroyuki Akagawa; Akira Narita; Haruhiko Yamada; Atsushi Tajima; Boris Krischek; Hidetoshi Kasuya; Tomokatsu Hori; Motoo Kubota; Naokatsu Saeki; Akira Hata; Tohru Mizutani; Ituro Inoue
Journal:  Hum Genet       Date:  2007-02-08       Impact factor: 4.132

7.  Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

Authors:  Elena Makareeva; Edward L Mertz; Natalia V Kuznetsova; Mary B Sutter; Angela M DeRidder; Wayne A Cabral; Aileen M Barnes; Daniel J McBride; Joan C Marini; Sergey Leikin
Journal:  J Biol Chem       Date:  2007-12-11       Impact factor: 5.157

8.  Role of TIMP-1 and TIMP-2 in the progression of cerebral aneurysms.

Authors:  Tomohiro Aoki; Hiroharu Kataoka; Takuya Moriwaki; Kazuhiko Nozaki; Nobuo Hashimoto
Journal:  Stroke       Date:  2007-06-14       Impact factor: 7.914

9.  Cathepsin B, K, and S are expressed in cerebral aneurysms and promote the progression of cerebral aneurysms.

Authors:  Tomohiro Aoki; Hiroharu Kataoka; Ryota Ishibashi; Kazuhiko Nozaki; Nobuo Hashimoto
Journal:  Stroke       Date:  2008-07-17       Impact factor: 7.914

Review 10.  Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

Authors:  Donald Basel; Robert D Steiner
Journal:  Genet Med       Date:  2009-06       Impact factor: 8.822

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  4 in total

1.  Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature.

Authors:  Fatih Yakar; Emrah Celtikci; Onur Ozgural; Umit Eroglu; Yusuf Sukru Caglar
Journal:  J Pediatr Genet       Date:  2018-06-14

2.  Multiple dysgenesis of brain supplying arteries in a patient with osteogenesis imperfecta.

Authors:  Adnan Labedi; Robert Hoepner; Carsten Lukas; Saskia H Meves; Christos Krogias
Journal:  Neurol Sci       Date:  2014-03-13       Impact factor: 3.307

3.  Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

Authors:  Avraam Ploumis; Andreas Liampas; Michail Angelidis; Areti Theodorou; Vasilios Xydis; Ioannis Gelalis; Peter Zampakis; Vasilios Panagiotopoulos
Journal:  J Vasc Interv Neurol       Date:  2018-11

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

Authors:  Toshio Hirohata; Satoru Miyawaki; Akiko Mizutani; Takayuki Iwakami; So Yamada; Hajime Nishido; Yasutaka Suzuki; Shinya Miyamoto; Katsumi Hoya; Mineko Murakami; Akira Matsuno
Journal:  BMC Neurol       Date:  2014-07-23       Impact factor: 2.474

  4 in total

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