Neurosurgical implications of osteogenesis imperfecta in children

Report of 4 cases

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✓Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Children with OI may suffer from complex neurosurgical problems affecting the brain and spine. The authors sought to determine the neurosurgical implications of OI in a cohort of patients treated at a quaternary care center for pediatrics.

The authors reviewed the case histories of 10 children with OI treated by the neurosurgical service at the Hospital for Sick Children in Toronto between January 1988 and March 2007. The cases of 4 of these children are highlighted in the article. The most common neurosurgical conditions encountered in this cohort included macrocephaly in 5 patients, subdural hematoma in 3 patients, epidural hematoma in 2 patients, and hydrocephalus in 3 patients. Basilar invagination and spinal fractures were observed in 20% of the cohort. Although some patients could be treated nonoperatively, several required craniotomy for clot evacuation, decompression, and spinal fixation for fracture or basilar invagination, and cerebrospinal fluid shunt insertion.

Neurosurgical conditions affecting patients with OI include macrocephaly, the development of an acute intracranial hematoma after often minimal trauma, the development of chronic subdural fluid collections that may require drainage, hydrocephalus (both communicating and noncommunicating), basilar invagination, and subaxial spinal fractures. Surgery may be complicated in some children because of the underlying bone fragility and bleeding diathesis commonly observed in patients with OI.

Abbreviations used in this paper: CSF = cerebrospinal fluid; CT = computed tomography; OI = osteogenesis imperfecta; SDH = subdural hematoma; VP = ventriculoperitoneal.

Article Information

Address correspondence to: James M. Drake, M.B.Ch., M.Sc., Division of Neurosurgery, Suite 1504, 555 University Avenue, Toronto, Ontario, Canada, M5G 1X8. email: james.drake@sickkids.ca.

© AANS, except where prohibited by US copyright law.

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Figures

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    Case 1. Axial (left) and coronal (right) reconstructed CT images without contrast material demonstrating a large, acute, right-sided epidural hematoma with significant mass effect and midline shift.

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    Case 2. Contrast-enhanced CT image demonstrating bilateral extraaxial fluid collections with areas of hypodensity and hyperdensity consistent in appearance with acute on chronic SDHs, most marked on the left side.

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    Case 2. Cranial reconstructed image demonstrating a wide patent fontanelle, and increased frontal bone prominence. There are old bilateral frontal–orbital and old bilateral frontal–parietal fractures.

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    Case 9. Axial (left) and sagittal (right) reconstructed CT scans demonstrating bilateral linear lucencies through the pars articularis of C-2, consistent in appearance with bilateral fracture.

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