Osteogenesis Imperfecta, a case report
DOI:
https://doi.org/10.56294/saludcyt202289Keywords:
Osteogenesis Imperfecta, Collagen, Brittle Bone Disease, GeneticAbstract
Introduction: osteogenesis imperfecta is a rare genetic disease mainly caused by a dominant mutation in COL1A1 y COL1A2 collagen type I genes which codes for collagen type I ???? chains. The OI may also be the result of recessive mutations in other genes. Its clinical spectrum that goes from milder form to lethal perinatal forms. Clinical diagnosis might be established in a patient that presents repeated fractures, blue scleras, short stature, teething disorders and deafness.
Case report: the patient was 24 years old, third gestation, with an obstetric history of a dead child with osteogenesis imperfecta, who was supervised and controlled in a public institution. Several laboratory tests corroborated that the current gestation presented osteogenesis imperfecta, thus, a surgical procedure was scheduled at 38.2 weeks of gestation. During the transoperative period, we found the newborn, with the described characteristics, alive. The child was admitted to the neonatology service, where we confirmed multiple fractures in extremities and thorax. In view of this reserved prognosis, she died within 24 hours due to pulmonary complications.
Conclusions: an early diagnosis within the first three months of pregnancy is essential in order to establish a prognosis and timely treatment whenever it is necessary
References
1. de Pablo Márquez B, Cueto González AM, Yela Verdú C, May Llanes ME. Imperfect osteogenesis. Med Clin (Barc). 2014;143(12):e23. https://doi.org/10.1016/j.medcli.2014.05.016
2. Ohata Y, Takeyari S, Nakano Y, Kitaoka T, Nakayama H, Bizaoui V, et al. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta. Osteoporos Int. 2019;30(11):2333-42. https://doi.org/10.1007/s00198-019-05076-6
3. Ministerio de Salud Pública del Ecuador. Diagnóstico y tratamiento del paciente con osteogénesis imperfecta. Guía de Práctica Clínica. Quito: Ministerio de Salud Pública, Dirección Nacional de Normatización - MSP; 2014. Disponible en: https://sedep.com.ec/wp-content/uploads/2021/05/Diagno%CC%81stico-y-tratamiento-del-paciente-con-osteoge%CC%81nesis-imperfecta.pdf
4. Reznikov N, Dagdeviren D, Tamimi F, Glorieux F, Rauch F, Retrouvey JM. Cone-Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three-Dimensional Evaluation of Craniofacial Features and Upper Airways. JBMR Plus. 2019;3(6):e10124. https://doi.org/10.1002/jbm4.10124
5. Bronheim R, Khan S, Carter E, Sandhaus RA, Raggio C. Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients. Spine (Phila Pa 1976). 2019;44(15):1057-63. https://doi.org/10.1097/brs.0000000000003012
6. Herreros MB, Franco R, Ascurra M. Las Osteogénesis imperfectas: revisión del tema. Pediatría (Asunción). 2008;35(1):33-7.
7. Zhytnik L, Maasalu K, Pashenko A, Khmyzov S, Reimann E, Prans E, et al. COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogénesis Imperfecta Patients. Front Genet. 2019;10:722. https://doi.org/10.3389/fgene.2019.00722
8. Gutiérrez-Díez MP, Molina Gutiérrez MA, Prieto Tato L, Parra García JI, Bueno Sánchez AM. Osteogénesis Imperfecta: Nuevas Perspectivas. Revista Española Endocrinología Pediátrica. 2013 4(160):75-85. https://doi.org/10.3266/RevEspEndocrinolPediatr.pre2013.Mar.160
9. Scaramuzzo L, Raffaelli L, Spinelli MS, Damis G, Maccauro G, Manicone PF. Orthopaedic and dental abnormalities in osteogenesis imperfecta: a review of the literature. J Biol Regul Homeost Agents. 2011;25(3):313-21.
10. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe AD, et al. Osteogénesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. https://doi.org/10.1038/nrdp.2017.52
11. Mejias Quintero ME, Salem Salem H. Osteogénesis Imperfecta. A propósito de un caso tipo II. Revista chilena de obstetricia y ginecología. 2018;83(1):86-92. http://dx.doi.org/10.4067/s0717-75262018000100086
12. Rossi V, Lee B, Marom R. Osteogenesis imperfecta: advancements in genetics and treatment. Curr Opin Pediatr. 2019;31(6):708-15. https://doi.org/10.1097%2FMOP.0000000000000813
13. Ju M, Bai X, Zhang T, Lin Y, Yang L, Zhou H, et al. Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta. J Bone Miner Metab. 2020;38(2):188-97. https://doi.org/10.1007/s00774-019-01039-3
14. Robinson ME, Trejo P, Palomo T, Glorieux FH, Rauch F. Osteogenesis Imperfecta: Skeletal Outcomes After Bisphosphonate Discontinuation at Final Height. J Bone Miner Res. 2019;34(12):2198-204. https://doi.org/10.1002/jbmr.3833
15. Cuevas-Olivo R, Alejo-Fuentes LJ, Alejo-Fuentes LF, Campos-Angulo G. Treatment with bisphosphonates improves the quality of life in patients with diagnosis of osteogenesis imperfecta. Acta Ortop Mex. 2019;33(2):63-6.
Published
Issue
Section
License
Copyright (c) 2022 Gladys Eugenia Moreno Pilozo , Andrea Verónica Castillo Ramírez , Mónica Valeria Larrea Idrovo , Diana Carolina Valle Valles , Luis Oswaldo Remache Guamán (Author)
This work is licensed under a Creative Commons Attribution 4.0 International License.
The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.
