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Open Access Case report

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

Toshio Hirohata12*, Satoru Miyawaki12, Akiko Mizutani3, Takayuki Iwakami1, So Yamada1, Hajime Nishido1, Yasutaka Suzuki1, Shinya Miyamoto1, Katsumi Hoya1, Mineko Murakami1 and Akira Matsuno1

Author Affiliations

1 Department of Neurosurgery, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara City, Chiba 299-0111, Japan

2 Department of Neurosurgery, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan

3 Teikyo Heisei University, 2-51-4 Higashi-Ikebukuro, Toshima-ku, Tokyo 170-8445, Japan

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BMC Neurology 2014, 14:150  doi:10.1186/1471-2377-14-150

Published: 23 July 2014

Abstract

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.

Keywords:
Osteogenesis imperfecta; Subarachnoid hemorrhage; Intracranial aneurysm; Type 1 collagen