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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review
OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION: Third child born at full-term to a non-consanguineous couple...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade de Pediatria de São Paulo
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178125/ https://www.ncbi.nlm.nih.gov/pubmed/26838603 http://dx.doi.org/10.1016/j.rppede.2015.10.009 |
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author | Sandoval, Renata Lazari Zaconeta, Carlos Moreno Margotto, Paulo Roberto Cardoso, Maria Teresinha de Oliveira França, Evely Mirella Santos Medina, Cristina Touguinha Neves Canó, Talyta Matos de Faria, Aline Saliba |
author_facet | Sandoval, Renata Lazari Zaconeta, Carlos Moreno Margotto, Paulo Roberto Cardoso, Maria Teresinha de Oliveira França, Evely Mirella Santos Medina, Cristina Touguinha Neves Canó, Talyta Matos de Faria, Aline Saliba |
author_sort | Sandoval, Renata Lazari |
collection | PubMed |
description | OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. COMMENTS: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism. |
format | Online Article Text |
id | pubmed-5178125 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Sociedade de Pediatria de São Paulo |
record_format | MEDLINE/PubMed |
spelling | pubmed-51781252017-01-04 Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review Sandoval, Renata Lazari Zaconeta, Carlos Moreno Margotto, Paulo Roberto Cardoso, Maria Teresinha de Oliveira França, Evely Mirella Santos Medina, Cristina Touguinha Neves Canó, Talyta Matos de Faria, Aline Saliba Rev Paul Pediatr Case Reports OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. COMMENTS: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism. Sociedade de Pediatria de São Paulo 2016 /pmc/articles/PMC5178125/ /pubmed/26838603 http://dx.doi.org/10.1016/j.rppede.2015.10.009 Text en © 2016 Sociedade de Pediatria de São Paulo. Published by Elsevier Editora Ltda http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Sandoval, Renata Lazari Zaconeta, Carlos Moreno Margotto, Paulo Roberto Cardoso, Maria Teresinha de Oliveira França, Evely Mirella Santos Medina, Cristina Touguinha Neves Canó, Talyta Matos de Faria, Aline Saliba Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title | Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title_full | Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title_fullStr | Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title_full_unstemmed | Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title_short | Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
title_sort | congenital central hypoventilation syndrome associated with hirschsprung's disease: case report and literature review |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178125/ https://www.ncbi.nlm.nih.gov/pubmed/26838603 http://dx.doi.org/10.1016/j.rppede.2015.10.009 |
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