Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review

Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo
Renata Lazari SandovalAline Saliba de Faria

Abstract

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. 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. This is ...Continue Reading

References

Feb 18, 2004·Pediatric Pulmonology·Mary VanderlaanDavid Gozal
Dec 15, 2007·American Journal of Respiratory and Critical Care Medicine·Delphine TrochetJeanne Amiel
May 24, 2008·Journal of Applied Physiology·Jingtao HuangCarole L Marcus
Nov 27, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Véronique DubreuilChristo Goridis
Aug 26, 2010·The Journal of Comparative Neurology·Patrice G GuyenetDouglas A Bayliss
Dec 13, 2012·Acta Paediatrica·Gábor MaricsPéter Tóth-Heyn
Mar 6, 2013·Pediatric Pulmonology·Tiziana BachettiIsabella Ceccherini
Apr 30, 2013·Journal of Medical Case Reports·Elizabeth BygarskiEdmond G Lemire
Nov 5, 2013·Revue des maladies respiratoires·D E Weese-MayerUNKNOWN sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society

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Citations

Jan 11, 2017·Respiratory Medicine Case Reports·Emily HopkinsRicardo A Mosquera
Nov 8, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·T Shawn SatoYutaka Sato
Oct 4, 2021·BMC Cardiovascular Disorders·Ko-Chin ChenGeoffrey D Croaker

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