Neurološke manifestacije i osobitosti spavanja u osteogenesis imperfecta

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder leading to skeletal fragility, fractures and deformities. The main pathophysiologic eff ect of OI is reduction in either the quality or the quantity of type I collagen, aff ecting the structures that normally contain type I 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 base of the skull, resulting in upwards migration of the upper cervical spine and odontoid process. The disease may directly involve neurovascular structures, leading to cavernous fi stulas, dissections, or aneurysms. The brain parenchyma can be aff ected in OI, with manifestations such as cerebral atrophy, hydrocephalus and cerebellar hypoplasia. Basilar impression/invagination are serious craniocervical junction abnormalities that can be life threatening. There is still no knowledge about sleep phenotype in OI. Neurologic manifestations and sleep disorders are valuable prognostic factors and are highly important features within the phenotypic complexity of OI. The measures of prevention in OI stress the need of regular monitoring of these issues from an early age and education of both OI patients and their families.Osteogenesis imperfecta (OI) je rijedak genetički poremećaj koji dovodi do krhkosti kostiju, prijeloma i deformiteta. Glavni patofi ziološki učinak OI je smanjenje u kvaliteti ili kvantiteti kolagena tip I te su stoga zahvaćene strukture koje normalno sadrže kolagen tip I. U 80% slučajeva postoje promjene u genima COL1A1 i COL1A2. Naš cilj je bio pretražiti relevantne podatke o neurorazvoju, spavanju i neurološkim komplikacijama u OI. Živčani sustav je zahvaćen u OI zbog omekšavanja kosti na bazi lubanje, što rezultira migracijom gornjeg dijela cervikalne kralježnice i odontoidnog procesusa. Bolest može izravno zahvatiti neurovaskularne strukture pa nastaju kavernozne fi stule, disekcije ili aneurizme. Moždani parenhim je zahvaćen u OI, s kliničkim entitetima kao što su cerebralna atrofi ja, komunicirajući hidrocefalus i cerebelarna hipoplazija. Bazilarna impresija/invaginacija su ozbiljne abnormalnosti kraniocervikalne veze i mogu biti životno ugrožavajuće. Zasad postoji vrlo malo saznanja o obrascima spavanja u OI. Neurološke komplikacije i poremećaji spavanja su korisni prognostički čimbenici i izrazito važne manifestacije unutar složenog fenotipa u OI. Mjere prevencije u OI ukazuju na potrebu redovitog praćenja ove problematike od rane dobi i edukacije bolesnika s OI i njihovih obitelji