APERT SYNDROME ASSOCIATED WITH PERSISTENCE OF BLAKE'S CYST: A RARE CLINICAL ASSOCIATION
Abstract
Apert syndrome is a rare genetic disorder that can also be called acrocephalosindactyly. It is genetically defined as an autosomal dominant inherited disease related to mutations of the fibroblast growth factor receptor 2 gene, FGFR2. The diagnosis of Apert syndrome is established in the clinical identification of the Apert triad associated or not with the identification by genetic mapping of the pathological heterozygote of the variant in FGFR2. The treatment plan of the syndrome, considering its presentation variables. The present study aimed to demonstrate details described in the literature on Apert syndrome, through a case report. A male patient with 8 hours of life is referred to the service of a university hospital presenting anatomical changes in the skull, lower and upper limbs and face identified as syndromic facies, macrocrania with prominent frontal, wide fontanelles and occipital flattening, universal syndactyly, bilateral clubfoot, low nasal base, shallow orbits, ogival palate. It is concluded that the clinical characteristics of the patient are in accordance with the characteristics reported in the literature for the syndrome, being diagnosed with Apert Syndrome. The treatment plan of the syndrome, considering its presentation variables, should be multidisciplinary combining the approaches of orthodontics, orthopedics, neurosurgery because this grounds the best results both aesthetically and functionally for patients with the syndrome.
Author Biographies
Graduanda em Medicina pela Universidade José do Rosário Vellano - UNIFENAS campus Alfenas.
Docente da Universidade José do Rosário Vellano, coordenadora do curso de Medicina campus Alfenas da Universidade José do Rosário Vellano, membro do Colegiado de curso e do Nucleo Docente Estruturante do Curso de Medicina da Universidade José do Rosário Vellano e plantonista do HOSPITAL UNIVERSITÁRIO ALZIRA VELANO. Mestrado Profissional em Ensino em Saúde, Graduação em Medicina, Especialização em Pediatria e Neonatologia.
Graduada em Medicina pela Universidade José do Rosário Vellano - Unifenas, Campus Alfenas-MG.
Graduação em Faculdade de Ciências Médicas pela Universidade Federal de Sergipe e mestrado em Ciências da Saude pela Escola Paulista de Medicina.
References
LeonardoF.; VieiraM. W.; PavanM. V. Síndrome de Apert: relato de caso. Revista Eletrônica Acervo Saúde, v. 13, n. 3, p. e6464, 22 mar. 2021. https://acervomais.com.br/index.php/saude/article/view/6464
Giraldo–Barrero YP, Carrillo–Mendigaño N, Peña– Vega CP, Yezioro–Rubinsky S. Síndrome de Apert: alternativas de tratamiento ortodóntico - quirúrgico y tiempos de ejecución. Una revisión de la literatura. Acta Odont Col. 2022; 12(1): 40–57. Disponible en: https://revistas.unal.edu.co/index.php/actaodontocol/article/view/97958
DE FIGUEIREDO LOPES, Clara et al. SÍNDROME DE APERT: REVISÃO DE LITERATURA E RELATO DE CASO CLÍNICO. Ciência Atual–Revista Científica Multidisciplinar do Centro Universitário São José, v. 15, n. 1, 2020. https://revista.saojose.br/index.php/cafsj/article/view/450
Cayón Cayón, F. E., Alegría Velasco, G. F., Alarcón Serrano, J. P., & Peñaherrera Carrillo, C. P. (2022). Tratamiento de sindactilia en paciente con síndrome de Apert. Metro Ciencia , 30 (4), 68-76. https://doi.org/10.47464/MetroCiencia/vol30/4/2022/68-76
Wenger TL, Hing AV, Evans KN. Apert Syndrome. In: GeneReviews®. University of Washington, Seattle, Seattle (WA); 1993. PMID: 31145570. https://pubmed.ncbi.nlm.nih.gov/31145570/
Vieira, C., Teixeira, N., Cadilhe, A., & Reis, I. (2019). Apert syndrome: prenatal diagnosis challenge. BMJ Case Reports, 12(12), e231982. 231982 https://pubmed.ncbi.nlm.nih.gov/31822532/ DOI: https://doi.org/10.1136/bcr-2019-
Cohen, M. M., & Kreiborg, S. (1993). Visceral anomalies in the Apert syndrome. American Journal of Medical Genetics, 45(6), 758– 760. https://pubmed.ncbi.nlm.nih.gov/8456856/ DOI: https://doi.org/10.1002/ajmg.1320450618
Forte, Antonio J. M.D., Ph.D.; Lu, Xiaona M.D.; Hashim, Peter W. M.D.;Steinbacher, Derek M. M.D., D.M.D.; Alperovich, Michael M.D.; Persing, John A. M.D.; Alonso, Nivaldo M.D., Ph.D.. Airway Analysis in Apert Syndrome. Plastic and Reconstructive Surgery 144(3):p 704-709, September 2019. | https://pubmed.ncbi.nlm.nih.gov/31461034/ DOI: https://doi.org/10.1097/PRS.0000000000005937
Pettitt, D. A., Arshad, Z., Mishra, A., & McArthur, P. (2017). Apert syndrome: A consensus on the management of Apert hands. Journal of Cranio-Maxillofacial Surgery, 45(2), 223–231. https://pubmed.ncbi.nlm.nih.gov/28087285/ DOI: https://doi.org/10.1016/j.jcms.2016.11.018
Allam, Karam A. M.D.; Wan, Derrick C. M.D.; Khwanngern, Krit M.D.; Kawamoto, Henry K. M.D., D.D.S.; Tanna, Neil M.D.; Perry, Adam M.D.; Bradley, James P. M.D.. Treatment of Apert Syndrome: A Long-Term Follow-Up Study. Plastic and Reconstructive Surgery 127(4):p 1601-1611, April 2011. | https://pubmed.ncbi.nlm.nih.gov/21187805/ DOI: https://doi.org/10.1097/PRS.0b013e31820a64b6
Raposo-Amaral, Cassio Eduardo M.D., Ph.D.; Denadai, Rafael M.D.; Furlan, Pedro M.D.; Raposo-Amaral, Cesar Augusto M.D.. Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand. Plastic and Reconstructive Surgery 142(4):p 972-982, October 2018. | https://pubmed.ncbi.nlm.nih.gov/29994846/ DOI: https://doi.org/10.1097/PRS.0000000000004815
Barro M, Ouedraogo YS, Nacro FS, Sanogo B, Kombasséré SO, Ouermi AS, Tamboura H, Cessouma RK, Nacro B. Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country. Pediatric Reports. 2019; 11(4):8224. https://doi.org/10.4081/pr.2019.8224 https://pubmed.ncbi.nlm.nih.gov/31871604/
Raposo-Amaral, C. E., Denadai, R., de Oliveira, Y. M., Ghizoni, E., & Raposo- Amaral, C. A. (2019). Apert Syndrome Management. Journal of Craniofacial Surgery, 1. https://pubmed.ncbi.nlm.nih.gov/31895846/ DOI: https://doi.org/10.1097/scs.0000000000006105
Riazi A, Vahidian M, Larry M, Sheibani Tehrani D, Alami M, Salehi Z, et al. Prevalence of cardiac anomalies in children with syndromic and non-syndromic craniosynostosis. Clin Neurosci J. 2022;9:e30. https://journals.sbmu.ac.ir/neuroscience/article/view/38321 DOI: https://doi.org/10.34172/icnj.2022.30
Azab WA, Shohoud SA, Elmansoury TM, Salaheddin W, Nasim K, Parwez A. Blake's pouch cyst. Surg Neurol Int. 2014 Jul 24;5:112. PMID: 25101207; PMCID: PMC4123264. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123264/ DOI: https://doi.org/10.4103/2152-7806.137533
OLIVEIRA, Giuliano da Paz; MOURA, Cássy Geovanna Ferreira; FONTENELE, Jean Lima; MENDES, Mariana Botelho Ribeiro; OLIVEIRA, Jader Cronemberger; SOARES, Nara Lívia Rezende. CLINICAL AND NEURORADIOLOGICAL FEATURES OF BLAKE’S POUCH CYST: ASPECTOS CLÍNICOS E NEURORRADIOLÓGICOS DA PERSISTÊNCIA CÍSTICA DA BOLSA DE BLAKE. Rev Bras Neurol, [S. l.], v. 55, n. 4, p. 25-26, OUT/NOV/DEZ 2019. Disponível em: https://pesquisa.bvsalud.org/portal/resource/pt/biblio-1095500 . Acesso em: 30 abr. 2023.
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2012 Jun;158A(6):1388-94. Epub 2012 May 14. PMID: 22585446. https://pubmed.ncbi.nlm.nih.gov/22585446/ DOI: https://doi.org/10.1002/ajmg.a.35358
Paladini D, Quarantelli M, Pastore G, Sorrentino M, Sglavo G, Nappi C. Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus. Ultrasound Obstet Gynecol. 2012 Mar;39(3):279-87. PMID: 22081472. https://pubmed.ncbi.nlm.nih.gov/22081472/ DOI: https://doi.org/10.1002/uog.10138
Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang, Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome, Taiwanese Journal of Obstetrics and Gynecology, Volume 52, Issue 2, 2013, Pages 273-277, ISSN 1028-4559, https://doi.org/10.1016/j.tjog.2013.04.022 (https://www.sciencedirect.com/science/article/pii/S1028455913000788 )
License
Copyright (c) 2023 RECIMA21 - Revista Científica Multidisciplinar - ISSN 2675-6218
This work is licensed under a Creative Commons Attribution 4.0 International License.
Os direitos autorais dos artigos/resenhas/TCCs publicados pertecem à revista RECIMA21, e seguem o padrão Creative Commons (CC BY 4.0), permitindo a cópia ou reprodução, desde que cite a fonte e respeite os direitos dos autores e contenham menção aos mesmos nos créditos. Toda e qualquer obra publicada na revista, seu conteúdo é de responsabilidade dos autores, cabendo a RECIMA21 apenas ser o veículo de divulgação, seguindo os padrões nacionais e internacionais de publicação.