Congenital Hypothyroidism and Intraluminal non-Fenestrated Diaphragm. Rare association

Authors

  • Nuvia Súarez García Centro Provincial de Genética Médica
  • Adelina Izquierdo Meralla
  • Deysi Licourt Otero
  • José Hernández Gómez
  • Daimí Fernández Álvarez

Keywords:

Congenital hypothyroidism/diagnosis/genetics/etiology, Intestinal atresia/genetics/diagnosis.

Abstract

Congenital hypothyroidism affects 1 in 3000 to 4000 neonates and is one of the preventable causes of learning difficulties. The case is presented of a male newborn who developed, on his birth, respiratory distress syndrome and digestive intolerance, progressing to dysfunction with abdominal distension, together with dimorphic signs on medical examination. The case is concluded as congenital hypothyroidism associated with duodenal atresia due to intraluminal non-fenestrated diaphragm. Surgical intervention was made on the 46 hours of life and the patient presented complications on his further development, and finally deceased. An updated revision was made about these diseases in the neonatal period and pictures of the case were presented under parental permission.

Downloads

Download data is not yet available.

References

1. Mayayo E, Santisteban P, Vicens-Calvet E. Patología tiroidea fetal y neonatal. En: Argente Oliver J, Carrascosa Lezcano A, Gracia Bouthelier R, Rodríguez Hierro F, editores. Tratado de endocrinología pediátrica y de la adolescencia. 2a ed. Barcelona: Doyma; 2000. p. 647-700.

2. Hypothyroidism athyreotic [Internet]. OMIM: Johns Hopkins University. [citado 10 Marzo 2012]. Disponible en: http://omim.org/entry/218700.

3. Germano Gejão M, Cusin Lamônica DA. Development skills in children with congenital hypothyroidism: focus on communication. Pró-Fono R Atual Cient [serie en Internet]. Jun-Mar 2008 [citado 20 Ene 2012]; 20(1): [aprox. 6 pantallas]. Disponible en: http://www.scielo.br/scielo.php?pid=S0104-56872008000100005&script=sci_arttext&tlng=es.

4. Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour MF. As mutações no gene PAX8 não constituem uma causa frequente de hipotireoidismo congênito em pacientes iranianos com disgenesia tiroidiana. Arq Bras Endocrinol Metabol [serie en Internet]. Ago 2010 [citado 20 Ene 2012]; 54(6): [aprox. 5 pantallas]. Disponible en: http://www.scielo.br/scielo.php?pid=S0004-27302010000600008&script=sci_arttext.

5. Baserga M, Pullano MN. Congenital hypothyroidism in Calabria: epidemiological and clinical aspects. Ann Ist Super Sanita [serie en Internet]. Oct-Dec 2009 [citado 20 Ene 2012]; 45(4):[aprox. 4 pantallas]. Disponible en: http://www.scielosp.org/scielo.php?pid=S0021-25712009000400015&script=sci_arttext.

6. Ramalho AR, Ramalho RJ, Oliveira CR, Santos EG, Oliveira MC, Aguiar-Oliveira MH. Neonatal screening program for congenital hypothyroidism in northeast of Brazil: criteria, diagnosis and results. Arq Bras Endocrinol Metabol [serie en Internet]. Jun 2008 [citado 20 Ene 2012]; 52(4): [aprox. 11 pantallas]. Disponible en: http://www.scielo.br/scielo.php?pid=S0004-27302008000400007&script=sci_arttext.

7. Setian N. Hypothyroidism in children: diagnosis and treatment. J Pediatr (Rio J) [serie en Internet]. Nov 2007 [citado 20 Ene 2012]; 83(5): [aprox. 8 pantallas]. Disponible en: http://www.scielo.br/scielo.php?pid=S0021-75572007000700013&script=sci_arttext.

8. Kemper AR, Ouyang L, Grosse SD. Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data. BMC Pediatr [serie en Internet]. 2010 [citado 20 Ene 2012]; 10(9): [aprox. 6 pantallas]. Disponible en: http://www.biomedcentral.com/content/pdf/1471-2431-10-9.pdf.

9. Astudillo P, Sandoval G, Vásconez F, Torres L, Darwin A. Diafragma duodenal: A propósito de un caso. Rev Fac Cienc Méd [serie en Internet]. 1994 [citado 20 Ene 2012]; 19(1/4): [aprox. 3 pantallas]. Disponible en: http://bases.bireme.br/cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&src=google&base=LILACS&lang=p&nextAction=lnk&exprSearch=178163&indexSearch=ID.

10. Duodenal atresia [Internet]. OMIM: Johns Hopkins University. [citado 10 Mar 2012]. Disponible en: http://omim.org/entry/223400.

11. Baeza Herrera C, León Cruz A, Sanjuán Fabián H, García Cabello LM. Colangiografía oral y la atresia duodenal. Gac Méd Méx [serie en Internet]. Mar-Abr 2006 [citado 20 Ene 2012]; 142(2): [aprox. 2 pantallas]. Disponible en: http://www.scielo.org.mx/pdf/gmm/v142n2/v142n2a19.pdf.

12. Vargas Bazurto MC, Pérez Hidalgo JM, Varón H, Cortés Villareal CA. Atresia duodenal con fístula esofagopleural: reporte de caso. Rev Colomb Radiol [serie en Internet]. 2011 [citado 20 Ene 2012]; 22(1): [aprox. 3 pantallas]. Disponible en: http://www.acronline.org/LinkClick.aspx?fileticket=2NDwdNQ3Gag%3d&tabid=164.

Published

2014-02-27

How to Cite

1.
Súarez García N, Izquierdo Meralla A, Licourt Otero D, Hernández Gómez J, Fernández Álvarez D. Congenital Hypothyroidism and Intraluminal non-Fenestrated Diaphragm. Rare association. Rev Ciencias Médicas [Internet]. 2014 Feb. 27 [cited 2025 Oct. 11];18(1):161-7. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/679

Issue

Section

CASE REPORTS