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

Abstract

BackgroundOsteogenesis 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 PresentationA 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.ConclusionThe patient followed a good clinical course after surgery. It remains controversial whether IAs are caused by OI or IAs are coincidentally complicated with OI.

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

“…A total of 38 (36.2%) of the OI type were not stated or unknown. Eleven case reports reported on the genetic etiology (Balasubramanian et al, ; Hirohata et al, ; Kaliaperumal et al, ; Kawakita, Fries, Singh, & Al‐Kouatly, ; Ishibashi & Yamanaka, ; Pabinger et al, ; Petruzzellis et al, ; Rajab, Essa, Hassani, & Bashmi, ; Vandersteen et al, ; Wallace et al, ; Weitzel & Percy, ). The mean age was 40.4 years old ( SD = 13.9 years), with a range of 18–82 years old.…”

“…However, in both cases, the controls were not matched based on age (Hald et al, 2018;Ruiter-Ligeti et al, 2016) and/or sex (Hald et al, 2018). (Balasubramanian et al, 2019;Hirohata et al, 2014;Kaliaperumal et al, 2011;Kawakita, Fries, Singh, & Al-Kouatly, 2018;Pabinger et al, 2012;Petruzzellis et al, 2007;Rajab, Essa, Hassani, & Bashmi, 2007;Vandersteen et al, 2014;Wallace et al, 2014;Weitzel & Percy, 2000). The mean age was 40.4 years old (SD = 13.9 years), with a range of 18-82 years old.…”

“…Fourteen case reports addressed the issue of cerebrovascular impairments in adults with OI. Eight reported cases of cerebrovascular hemorrhage (Goddeau, Caplan, & Alhazzani, 2010;Hirohata et al, 2014;Kaliaperumal et al, 2011;Mansfield & Rahme, 2015;Matouk, Hanbidge, Mandell, Terbrugge, & Agid, 2011;Petruzzellis et al, 2007;Rouviere, Michelini, Sarda, & Pages, 2004;Sardana, Kamble, Sharma, Maheshwari, & Bhushan, 2017). Of those case reports, six specifically described cases of subarachnoid hemorrhage (Gaberel et al, 2016;Hirohata et al, 2014;Kaliaperumal et al, 2011;Mansfield & Rahme, 2015;Matouk et al, 2011;Petruzzellis et al, 2007).…”

“…Eight reported cases of cerebrovascular hemorrhage (Goddeau, Caplan, & Alhazzani, 2010;Hirohata et al, 2014;Kaliaperumal et al, 2011;Mansfield & Rahme, 2015;Matouk, Hanbidge, Mandell, Terbrugge, & Agid, 2011;Petruzzellis et al, 2007;Rouviere, Michelini, Sarda, & Pages, 2004;Sardana, Kamble, Sharma, Maheshwari, & Bhushan, 2017). Of those case reports, six specifically described cases of subarachnoid hemorrhage (Gaberel et al, 2016;Hirohata et al, 2014;Kaliaperumal et al, 2011;Mansfield & Rahme, 2015;Matouk et al, 2011;Petruzzellis et al, 2007). The subarachnoid hemorrhages were due to aneurysms of cerebral arteries of various form, such as saccular (Gaberel et al, 2016;Hirohata et al, 2014;Petruzzellis et al, 2007), fusiform (Petruzzellis et al, 2007), and dissecting (Mansfield & Rahme, 2015;Matouk et al, 2011) aneurysms.…”

Dissecting Aneurysm of the Recurrent Artery of Heubner in a Patient With Osteogenesis Imperfecta

“…In fact, there is only a handful of case reports describing intracranial aneurysms in patients with OI, with the majority being saccular in nature, arising from typical locations, including the anterior communicating, basilar, or middle cerebral artery. 10 Only one previous report exists of a ruptured intracranial dissecting aneurysm in the setting of OI, which involved the superior cerebellar artery. 11 Interestingly, the patient described here also had evidence of prior extracranial dissections of the right internal carotid and vertebral arteries, which likely reflects underlying vascular wall fragility secondary to OI.…”