Neurologic manifestations and sleep issues in osteogenesis imperfecta

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder leading to skeletal fragility, fractures and deformities. The main pathophysiologiceff ect of OI is reduction in either the quality or the quantity of type I collagen, aff ecting the structures that normally contain typeI collagen. COL1A1 and COL1A2 genes account for 80% of cases. Our aim was to review relevant information on the neurodevelopment,sleep issues and neurologic complications in OI. The nervous system is involved in OI because of softening of bone at the baseof the skull, resulting in upwards migration of the upper cervical spine and odontoid process. The disease may directly involve neurovascularstructures, leading to cavernous fi stulas, dissections, or aneurysms. The brain parenchyma can be aff ected in OI, withmanifestations such as cerebral atrophy, hydrocephalus and cerebellar hypoplasia. Basilar impression/invagination are seriouscraniocervical junction abnormalities that can be life threatening. There is still no knowledge about sleep phenotype in OI. Neurologicmanifestations and sleep disorders are valuable prognostic factors and are highly important features within the phenotypiccomplexity of OI. The measures of prevention in OI stress the need of regular monitoring of these issues from an early age and educationof both OI patients and their families.Key words: osteogenesis imperfecta, nervous system, neurodevelopment, sleep apnea