Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review

Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. Although orthopedic management is improving, other complications are poorly understood. We describe three patients with OI with unruptured intracranial aneurysm (IA) detected by magn...

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Bibliographic Details
Published in:ENDOCRINE JOURNAL 2023, Vol.70(7), pp.697-702
Main Authors: Matsushiro, Mari, Harada, Daisuke, Ueyama, Kaoru, Kashiwagi, Hiroko, Ishiura, Yoshihito, Yamada, Hiroyuki, Seino, Yoshiki
Format: Article
Language:English
Subjects:
Aneurysm
Aneurysms
Angiography
Bone mineral density
Bone surgery
Carotid artery
Collagen (type I)
Dentinogenesis
Dentinogenesis imperfecta
Femur
Fractures
Hereditary diseases
Intracranial aneurysm
Literature reviews
Long bone
Magnetic resonance angiography
Osteogenesis
Osteogenesis imperfecta
Scoliosis
Spine (lumbar)
Subarachnoid hemorrhage
Vertebrae
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Summary:Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. Although orthopedic management is improving, other complications are poorly understood. We describe three patients with OI with unruptured intracranial aneurysm (IA) detected by magnetic resonance angiography (MRA) screening of 14 patients. Case 1 was a 73-year-old woman with type 1 OI with blue sclera, vertebral compression fractures, and impaired hearing. Lumbar spine bone mineral density (BMD) was preserved (young adult mean (YAM): 86%). MRA revealed an IA in the right internal carotid artery. Case 2 was a 43-year-old man with type 4 OI and leg-length discrepancy due to left femoral neck fracture. Lumbar spine BMD was decreased (YAM: 61%). MRA showed an IA in the left anterior cerebral artery. Case 3 was a 35-year-old woman with type 3 OI with blue sclera, dentinogenesis imperfecta, deformity of the long bones, and severe scoliosis. She had undergone spine surgery and needed wheelchair assistance. The YAM of the femoral neck BMD was 71%. MRA indicated an IA in the right posterior communicating artery. The prevalence of IA in our series of patients with OI was 21%, which is higher than the reported prevalence of unruptured IA in the Japanese general population (2.2%), suggesting that IA may be a complication of OI. Our literature review revealed no cases of OI with unruptured IA, but 11 cases of OI with subarachnoid hemorrhage. IA seems unrelated to OI type, sex, or age. We recommend MRA of adults with OI.
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.EJ22-0620