Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man.
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.
Department of Neurosurgery, Cork University Hospital, Cork, Ireland. ckaliaperumal@gmail.com
Chandrasekaran
C
Kaliaperumal
Tom
T
Walsh
Chandramouli
C
Balasubramanian
Gerry
G
Wyse
Noel
N
Fanning
George
G
Kaar
D017542:Aneurysm, Ruptured / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D002533:Cerebral Angiography; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D012422:Rupture, Spontaneous / Q000150:complications / Q000000981:diagnostic imaging / Q000601:surgery; D020521:Stroke / Q000209:etiology; D000071939:Stroke Rehabilitation; D013345:Subarachnoid Hemorrhage / Q000150:complications / Q000000981:diagnostic imaging / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014711:Vertebral Artery
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain