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Pregledni rad
https://doi.org/10.13112/PC.2017.16

Neurologic manifestations and sleep issues in osteogenesis imperfecta

Romana Gjergja Juraški ; Dječja bolnica Srebrnjak
Mirjana Turkalj
Ivan Mikula
Dragan Primorac

Puni tekst: engleski, pdf (708 KB) str. 113-120 preuzimanja: 677* citiraj
APA 6th Edition
Gjergja Juraški, R., Turkalj, M., Mikula, I. i Primorac, D. (2017). Neurologic manifestations and sleep issues in osteogenesis imperfecta. Paediatria Croatica, 61 (3), 113-120. https://doi.org/10.13112/PC.2017.16
MLA 8th Edition
Gjergja Juraški, Romana, et al. "Neurologic manifestations and sleep issues in osteogenesis imperfecta." Paediatria Croatica, vol. 61, br. 3, 2017, str. 113-120. https://doi.org/10.13112/PC.2017.16. Citirano 16.10.2021.
Chicago 17th Edition
Gjergja Juraški, Romana, Mirjana Turkalj, Ivan Mikula i Dragan Primorac. "Neurologic manifestations and sleep issues in osteogenesis imperfecta." Paediatria Croatica 61, br. 3 (2017): 113-120. https://doi.org/10.13112/PC.2017.16
Harvard
Gjergja Juraški, R., et al. (2017). 'Neurologic manifestations and sleep issues in osteogenesis imperfecta', Paediatria Croatica, 61(3), str. 113-120. https://doi.org/10.13112/PC.2017.16
Vancouver
Gjergja Juraški R, Turkalj M, Mikula I, Primorac D. Neurologic manifestations and sleep issues in osteogenesis imperfecta. Paediatria Croatica [Internet]. 2017 [pristupljeno 16.10.2021.];61(3):113-120. https://doi.org/10.13112/PC.2017.16
IEEE
R. Gjergja Juraški, M. Turkalj, I. Mikula i D. Primorac, "Neurologic manifestations and sleep issues in osteogenesis imperfecta", Paediatria Croatica, vol.61, br. 3, str. 113-120, 2017. [Online]. https://doi.org/10.13112/PC.2017.16

Sažetak
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.

Ključne riječi
osteogenesis imperfecta; nervous system; neurodevelopment; sleep apnea

Hrčak ID: 201165

URI
https://hrcak.srce.hr/201165

[hrvatski]

Posjeta: 863 *