Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview.

ABSTRACT

Osteogenesis imperfecta is a rare genetic disorder that leads to progressive skeletal deformities due to deficits in type I collagen, the main pathophysiologic effect of the disease. In addition, it may lead to a wide range of associated neurologic abnormalities The central nervous system is usually involved because of softening of bone at the base of the skull, with resultant upward migration of the upper cervical spine and odontoid process into the skull base. Upward migration of the spine may cause compression of the brainstem, mechanical impingement of the spinal canal with restriction of cerebrospinal fluid circulation, and impingement of the cranial nerves. Osteogenesis imperfecta also may directly involve neurovascular structures, leading to cavernous fistulas of the carotid artery, dissection of the cervical arteries, and cerebral aneurysms. The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia. The imaging features of the disorder vary as widely as its clinical manifestations, depending on the severity of disease. Severe forms accompanied by debilitating skeletal fractures and progressive neurologic impairments may lead to perinatal death, whereas milder asymptomatic forms might cause only a modest reduction in life span. The most important advance in medical therapy for osteogenesis imperfecta has been the introduction of bisphosphonate therapy to slow the resorption of bone in patients with moderate to severe forms of the disease (ie, type III or IV). In some patients, neurosurgery may be necessary to correct the effects of severe basilar invagination by the odontoid process.