Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Revista Paulista de Pediatria (Ed. Português. Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000300374 |
Resumo: | Abstract 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. |
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature reviewCongenital central hypoventilation syndromeOndine syndromeHirschsprung's diseaseHaddad syndromePHOX2B geneAbstract 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 Paulo2016-09-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000300374Revista Paulista de Pediatria v.34 n.3 2016reponame:Revista Paulista de Pediatria (Ed. Português. Online)instname:Sociedade de Pediatria de São Paulo (SPSP)instacron:SPSP10.1016/j.rppede.2015.10.009info:eu-repo/semantics/openAccessSandoval,Renata LazariZaconeta,Carlos MorenoMargotto,Paulo RobertoCardoso,Maria Teresinha de OliveiraFrança,Evely Mirella SantosMedina,Cristina Touguinha NevesCanó,Talyta MatosFaria,Aline Saliba deeng2016-09-08T00:00:00Zoai:scielo:S0103-05822016000300374Revistahttps://www.rpped.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.phppediatria@spsp.org.br||rpp@spsp.org.br1984-04620103-0582opendoar:2016-09-08T00:00Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)false |
dc.title.none.fl_str_mv |
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 |
spellingShingle |
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review Sandoval,Renata Lazari Congenital central hypoventilation syndrome Ondine syndrome Hirschsprung's disease Haddad syndrome PHOX2B gene |
title_short |
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_sort |
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review |
author |
Sandoval,Renata Lazari |
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 Faria,Aline Saliba de |
author_role |
author |
author2 |
Zaconeta,Carlos Moreno Margotto,Paulo Roberto Cardoso,Maria Teresinha de Oliveira França,Evely Mirella Santos Medina,Cristina Touguinha Neves Canó,Talyta Matos Faria,Aline Saliba de |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
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 Faria,Aline Saliba de |
dc.subject.por.fl_str_mv |
Congenital central hypoventilation syndrome Ondine syndrome Hirschsprung's disease Haddad syndrome PHOX2B gene |
topic |
Congenital central hypoventilation syndrome Ondine syndrome Hirschsprung's disease Haddad syndrome PHOX2B gene |
description |
Abstract 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. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-09-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000300374 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000300374 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.rppede.2015.10.009 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade de Pediatria de São Paulo |
publisher.none.fl_str_mv |
Sociedade de Pediatria de São Paulo |
dc.source.none.fl_str_mv |
Revista Paulista de Pediatria v.34 n.3 2016 reponame:Revista Paulista de Pediatria (Ed. Português. Online) instname:Sociedade de Pediatria de São Paulo (SPSP) instacron:SPSP |
instname_str |
Sociedade de Pediatria de São Paulo (SPSP) |
instacron_str |
SPSP |
institution |
SPSP |
reponame_str |
Revista Paulista de Pediatria (Ed. Português. Online) |
collection |
Revista Paulista de Pediatria (Ed. Português. Online) |
repository.name.fl_str_mv |
Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP) |
repository.mail.fl_str_mv |
pediatria@spsp.org.br||rpp@spsp.org.br |
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1750318249692626944 |