ADOPA

Contacto

C/ Santiago 702, Zona Universitaria, República Dominicana

Redes sociales

Publicado: 04/21/2024

DOI: https://doi.org/10.58994/adopa.v2i1.34

Síndrome de Patau - Trisomía 13

Cómo citar

1.
Sanchez R, Rodríguez K, Mateo Y, Ramírez Peña E. Síndrome de Patau - Trisomía 13. ADOPA. 2024;2(1):63-76. Disponible en: http://adopa.pediatriadominicana.org/index.php/adopa/article/view/34

Resumen

A case is presented of a male newborn, 37 weeks, appropriate for gestational age, who was born by cesarean section, with a maternal history of gestational arterial hypertension and positive urine culture for E. Coli. Which at birth presents multiple phenotypic malformations. The patient was admitted due to transient tachypnea of the newborn and multiple malformations. During his stay in the neonatology service of the Hospital Universitario Docente Maternidad Nuestra Señora de la Altagracia, the patient was kept on oxygen therapy by oxyhood due to respiratory distress and was operated by the pediatric surgery department to reduce gastroschisis to 100%. Presenting a laboratory report within the reference range for age and negative blood culture. This article presents the characteristics and conditions of the patient, his clinical evolution and the complications that arose during his admission to the hospital.

Abstract

A case is presented of a male newborn, 37 weeks, appropriate for gestational age, who was born by cesarean section, with a maternal history of gestational arterial hypertension and positive urine culture for E. Coli. Which at birth presents multiple phenotypic malformations. The patient was admitted due to transient tachypnea of the newborn and multiple malformations. During his stay in the neonatology service of the Hospital Universitario Docente Maternidad Nuestra Señora de la Altagracia, the patient was kept on oxygen therapy by oxyhood due to respiratory distress and was operated by the pediatric surgery department to reduce gastroschisis to 100%. Presenting a laboratory report within the reference range for age and negative blood culture. This article presents the characteristics and conditions of the patient, his clinical evolution and the complications that arose during his admission to the hospital.

Referencias

Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Disponible en: Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 98.

Nina N. Powell-Hamilton, MD, Sidney Kimmel, Síndrome de Patau, Trisomía 13, por Medical College at Thomas Jefferson University Revisado/Modificado dic; 2021.

Trisomy 13. MedlinePlus;2017. Disponible en: http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm

Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD); 2007. Disponible en: https://rarediseases.org/rare-diseases/trisomy-13-syndrome/

Cammarata-Scalisi F, Araque D, Ramírez R, Guaran L, Da Silva G. Mosaicismo de trisomía 13Trisomy 13 mosaicism. Boletín médico del Hospital Infantil de México. 2019;76(5). Disponible en: https://doi.org/10.24875/bmhim.19000003, SciELO-Scientific Electronic Library Online.

Cammarata-Scalisi F, Araque D, Lacruz-Rengel MA, Valera-Ruíz B. Trisomía 13 en mosaicoMosaic trisomy 13. Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Instituto Autónomo Hospital Universitario de Los Andes, Mérida, Venezuela. Servicio de Neuropediatría, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.

Sierra Santos L, Álvarez Herrero C, Gil Sánchez L, Sierra Santos E. Un síndrome de Patau con una supervivencia que supera los pronósticos. Centro de Salud de Manzanares el Real y V Centenario. Área 5. Madrid. Medifam. 2001;11(8).

Division of Child and Adolescent Health, Pediatric Screening and Genetic Services, Virginia Genetics Program. Disponible en: www.vahealth.org/genetics

Asociación Española de Pediatría, 28008, Madrid; 2024.

Licencia

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.