Pré-escolar com Síndrome de Megalencefalia – má formação capilar (MCAP): relato de caso
Resumo
Relato de caso da síndrome de Megalencefalia – Má formação Capilar para divulgar informações e propiciar a discussão sobre síndromes congênitas. Nesse contexto, são recomendados acompanhamentos clínico e radiológico para monitorar a evolução da síndrome e, quanto à abordagem terapêutica, esta deve ser a mais ampla e multidisciplinar possível, para determinar evoluções neurais, fonoaudiológicas e na adaptação do indivíduo ao ambiente uma vez que um tratamento específico inexiste.
Referências
Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291-302.
http://dx.doi.org/10.1097/00019605-199710000-00001
Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:6773.
http://dx.doi.org/10.1002/(sici)10968628(19970502)70:1<67::aid-ajmg13>3.0.co;2-v
Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet Part A 2012;158A:269-91. http://dx.doi.org/10.1002/ajmg.a.34402
Loughan AR, Harrell M, Perna R, Allen A, Suddarth B. Megalencephaly-capillary Malformation Polymicrogyria: A Review and Complex Pediatric Case Report. Appl Neuropsychol Child 2017;6:369-77. http://dx.doi.org/10.1080/21622965.2016.1182432
Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet Part C 2013;163C:122-30.
http://dx.doi.org/10.1002/ajmg.c.31361
Papetti L, Tarani L, Nicita F, Ruggieri M, Mattiucci C, Mancini F, et al. Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria. Brain Dev 2012;34:143-7. http://dx.doi.org/10.1016/j.braindev.2011.02.001
Segal D, Heary RF, Sabharwal S, Barry MT, Ming X. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. Neurosurg Pediatr 2016;18:79-82.
http://dx.doi.org/10.3171/2016.1.peds15482
Alsaedi SA, Qurashi O, Bajunaid M, Altalhi AA, Shawli AM. One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review. Cureus 2020;12:e6586. http://dx.doi.org/10.7759/cureus.6586
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. Neuroimaging findings in capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007;143A:2981-3008. http://dx.doi.org/10.1002/ajmg.a.32040
Maguolo A, Antoniazzi F, Span A, Fiorini E, Gaudino R, Mauro M, et al. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > a mutation in PIK3CA gene. Ita J Ped 2018;44:2-6. http://dx.doi.org/10.1186/s13052-018-0568-8
Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, et al. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. Am J Med Genet Part A 2020;182:162-8. http://dx.doi.org/10.1002/ajmg.a.61403
Drachler M de L, Marshall T, de Carvalho Leite JC. A continuous-scale measure of child development for population-based epidemiological surveys: a preliminary study using Item Response Theory for the Denver Test. Paed Perin Epidemiol 2007;21:138-53. http://dx.doi.org/10.1111/j.1365-3016.2007.00787.x
Chiari BM, Basilio CS, Nakagawa EA, Cormedi MA, Silva NSM, Cardoso RM, et al. Proposta de sistematização de dados da avaliação fonoaudiológica através da observação de comportamentos de criança de 0 a 6 anos. Pró-fono 1991;3:29-36.
Lacerda LS, Alves UD, Zanier JFC, Machado DC, Camilo GB, Lopes AJ. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations. Radiol Res Pract 2014;2014:947451. http://dx.doi.org/10.1155/2014/947451
Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS. Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. Korean J Pediatr 2016;59:152-6. http://dx.doi.org/10.3345/kjp.2016.59.11.s152
McDermott JH, Byers H, Clayton-Smith J. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. Clin Dysmorphol 2015;25:16-8. doi.org/10.1097/MCD.0000000000000099
Copyright (c) 2021 Gustavo Bittencourt Camilo, Gabriela Cumani Toledo Camilo, Vitória Dias Campos, Pedro de Freitas Batista Mendes, Matheus Cruz Ferraro, Lara Esteves Ferreira de Oliveira Almeida, Fernando Oliveira Nunes Caixeta, Cristiano Guimarães Pinto Martins
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