Peer-reviewed general biomedical journal
Case Report
Medwave 2020;20(2):e7826 doi: 10.5867/medwave.2020.01.7826
A case report of Noonan syndrome diagnosed in primary healthcare
Jenny Villaroel-Vargas , Lucía Molina-Vargas , Andrea Zurita-Leal , Alicia Zavala-Calahorrano
Key Words: Noonan syndrome, congenital heart defects, genetic diseases
Abstract
Noonan syndrome is an autosomal dominant inherited disorder with variable phenotypic expression. It belongs to the group of diseases known as RASopathies, which are characterized by mutations in the RAS genes. Patients develop symptoms such as facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders and mental retardation. In this article, we report a case of Noonan syndrome in a 14-year-old patient, diagnosed in a primary health center in Ecuador. The syndrome was identified through clinical diagnosis, after which the patient was referred to the secondary and tertiary levels for specialized care.
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El síndrome de Noonan es un trastorno genético de herencia autosómica dominante, de expresión fenotípica variable. Pertenece al grupo de las enfermedades conocidas como rasopatías, trastornos producido por las mutaciones en los genes RAS. Los pacientes desarrollan síntomas como dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y discapacidad intelectual. En el presente reporte, se describe un caso de diagnóstico del síndrome de Noonan en un paciente de 14 años, realizado a nivel de atención primaria en Ecuador. El síndrome se identificó mediante diagnóstico clínico, permitiendo su derivación al segundo y tercer nivel de salud para una atención especializada.
Authors:
Jenny Villaroel-Vargas [1], Lucía Molina-Vargas [1], Andrea Zurita-Leal [1], Alicia Zavala-Calahorrano[1]
Affiliation:
[1] Facultad de Ciencias de la Salud, Universidad Técnica de Ambato, Ambato, Ecuador
E-mail: am.zavala@uta.edu.ec
Author address:
[1] Colombia 02-11 Ambato 180105 Ecuador
Citation: Villaroel-Vargas J, Molina-Vargas L, Zurita-Leal A, Zavala-Calahorrano A. A case report of Noonan syndrome diagnosed in primary healthcare. Medwave 2020;20(2):e7826 doi: 10.5867/medwave.2020.01.7826
Submission date: 23/6/2019
Acceptance date: 13/1/2020
Publication date: 26/2/2020
Origin: No solicitado
Type of review: Con revisión por pares externa, por tres árbitros a doble ciego
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- Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015 Dec;88(6):516-22. | CrossRef | PubMed |
- Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. | CrossRef | PubMed |
- Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, et al. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian Pediatr. 2017 Aug 15;54(8):638-643. | PubMed |
- Sublett JA, Prada CE, Jefferies JL. Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. Eur J Med Genet. 2017 Dec;60(12):680-684. | CrossRef | PubMed |
- Aguedo Pérez D, Pérez Recio Y, Chang Velázquez J, Tamayo Lamothe E, Pérez Aguedo D, Machín Pérez J. Síndrome de Noonan. Presentación de caso. Correo Científico Médico de Holguín.2018;(22):1. [On line]. | Link |
- Bobot M, Coen M, Simon C, Daniel L, Habib G, Serratrice J. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. Medicine (Baltimore). 2018 Apr;97(15):e0297. | CrossRef | PubMed |
- Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, et al. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. Eur J Hum Genet. 2016 May;24(5):690-6. | CrossRef | PubMed |
- Navas AM, Leggio K, Espinel Blanco H, Whitney T. Síndrome de Noonan. Med Interna. 2015;31(1):44-7. [On line]. | Link |
- Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - a new survey. Arch Med Sci. 2017 Feb 1;13(1):215-222. | CrossRef | PubMed |
- Azuola- Herrera S, Vargas-Mojica SR, Paris-Azuola R. Síndrome de Noonan. Revisión bibliográfica y reporte de caso clínico. Rev Científica Odontol. 2015;11(2):24-33. [On line]. | Link |
- Mosquera Flor N, Procel P, Vaca Chiriboga L. Síndrom e de Noonam : análisis de 5 casos presentados en 6 meses en el Hospital Enrique Garcés . Rev Fac Cienc Méd. 2001;26(2-3):37–8. [On line]. | Link |
- Verdezoto G, Rugel R, Guzmán AA. Reporte de caso clínico: síndrome de Noonan. Medicina (B Aires). 2011;17(3):209–14. [On line]. | Link |
- Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S. A review of craniofacial and dental findings of the RASopathies. Orthod Craniofac Res. 2017 Jun;20 Suppl 1:32-38. | CrossRef | PubMed |
- Şıklar Z, Genens M, Poyrazoğlu Ş, Baş F, Darendeliler F, Bundak R, et al. The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):305-12. | CrossRef | PubMed |
- Zavras N, Meazza C, Pilotta A, Gertosio C, Pagani S, Tinelli C, et al. Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 2015 Oct 6;41:71. | CrossRef | PubMed |
- Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. BMC Med Genomics. 2017 Oct 30;10(1):62. | CrossRef | PubMed |
- Rocha Guimarães J, Andrade Porto São Pedro S, Britto Guimarães IC. Incidência de síndromes genéticas associadas às cardiopatias congênitas. Rev Ciências Médicas e Biológicas. 2017;16(3):329-32. [On line]. | CrossRef |
- Oliveira PHA, Souza BS, Pacheco EN, Menegazzo MS, Corrêa IS, Zen PRG, et al. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice. Arq Bras Cardiol. 2018 Jan;110(1):84-90. | CrossRef | PubMed |
- Sun XL, Zhao JX, Chen XJ, Zeng Z, Chen YC, Zhang Q. A Unique Case of a 12-Year-Old Boy With Noonan Syndrome Combined With Noncompaction of the Ventricular Myocardium. Int Heart J. 2016;57(2):258-61. | CrossRef | PubMed |
- Arroyo-Carrera I, Solo de Zaldivar-Tristancho M, Martin-Fernandez R, Vera-Torres M, Gonzalez de Buitrago-Amigo JF, Botet-Rodriguez J. [RIT1: a novel gene associated with Noonan syndrome]. Rev Neurol. 2016 Oct 16;63(8):358-362. | PubMed |
Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017 Jun;25(7):823-831. | CrossRef | PubMed |Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, et al. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. BMC Med Genet. 2015 Oct 14;16:95. | CrossRef | PubMed |Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015 Dec;88(6):516-22. | CrossRef | PubMed |Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. | CrossRef | PubMed |Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, et al. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian Pediatr. 2017 Aug 15;54(8):638-643. | PubMed |Sublett JA, Prada CE, Jefferies JL. Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. Eur J Med Genet. 2017 Dec;60(12):680-684. | CrossRef | PubMed |Aguedo Pérez D, Pérez Recio Y, Chang Velázquez J, Tamayo Lamothe E, Pérez Aguedo D, Machín Pérez J. Síndrome de Noonan. Presentación de caso. Correo Científico Médico de Holguín.2018;(22):1. [On line]. | Link |Bobot M, Coen M, Simon C, Daniel L, Habib G, Serratrice J. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. Medicine (Baltimore). 2018 Apr;97(15):e0297. | CrossRef | PubMed |Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, et al. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. Eur J Hum Genet. 2016 May;24(5):690-6. | CrossRef | PubMed |Navas AM, Leggio K, Espinel Blanco H, Whitney T. Síndrome de Noonan. Med Interna. 2015;31(1):44-7. [On line]. | Link |Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - a new survey. Arch Med Sci. 2017 Feb 1;13(1):215-222. | CrossRef | PubMed |Azuola- Herrera S, Vargas-Mojica SR, Paris-Azuola R. Síndrome de Noonan. Revisión bibliográfica y reporte de caso clínico. Rev Científica Odontol. 2015;11(2):24-33. [On line]. | Link |Mosquera Flor N, Procel P, Vaca Chiriboga L. Síndrom e de Noonam : análisis de 5 casos presentados en 6 meses en el Hospital Enrique Garcés . Rev Fac Cienc Méd. 2001;26(2-3):37–8. [On line]. | Link |Verdezoto G, Rugel R, Guzmán AA. Reporte de caso clínico: síndrome de Noonan. Medicina (B Aires). 2011;17(3):209–14. [On line]. | Link |Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S. A review of craniofacial and dental findings of the RASopathies. Orthod Craniofac Res. 2017 Jun;20 Suppl 1:32-38. | CrossRef | PubMed |Şıklar Z, Genens M, Poyrazoğlu Ş, Baş F, Darendeliler F, Bundak R, et al. The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):305-12. | CrossRef | PubMed |Zavras N, Meazza C, Pilotta A, Gertosio C, Pagani S, Tinelli C, et al. Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 2015 Oct 6;41:71. | CrossRef | PubMed |Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. BMC Med Genomics. 2017 Oct 30;10(1):62. | CrossRef | PubMed |Rocha Guimarães J, Andrade Porto São Pedro S, Britto Guimarães IC. Incidência de síndromes genéticas associadas às cardiopatias congênitas. Rev Ciências Médicas e Biológicas. 2017;16(3):329-32. [On line]. | CrossRef |Oliveira PHA, Souza BS, Pacheco EN, Menegazzo MS, Corrêa IS, Zen PRG, et al. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice. Arq Bras Cardiol. 2018 Jan;110(1):84-90. | CrossRef | PubMed |Sun XL, Zhao JX, Chen XJ, Zeng Z, Chen YC, Zhang Q. A Unique Case of a 12-Year-Old Boy With Noonan Syndrome Combined With Noncompaction of the Ventricular Myocardium. Int Heart J. 2016;57(2):258-61. | CrossRef | PubMed |Arroyo-Carrera I, Solo de Zaldivar-Tristancho M, Martin-Fernandez R, Vera-Torres M, Gonzalez de Buitrago-Amigo JF, Botet-Rodriguez J. [RIT1: a novel gene associated with Noonan syndrome]. Rev Neurol. 2016 Oct 16;63(8):358-362. | PubMed |
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