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Rare cause of neonatal apnea from congenital central hypoventilation syndrome
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise awareness of this rare cause of neonatal apnea and hypoventi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867765/ https://www.ncbi.nlm.nih.gov/pubmed/35209861 http://dx.doi.org/10.1186/s12887-022-03167-8 |
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author | Tovichien, Prakarn Rattananont, Krittin Kulthamrongsri, Narathorn Chanvanichtrakool, Mongkol Yangthara, Buranee |
author_facet | Tovichien, Prakarn Rattananont, Krittin Kulthamrongsri, Narathorn Chanvanichtrakool, Mongkol Yangthara, Buranee |
author_sort | Tovichien, Prakarn |
collection | PubMed |
description | BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise awareness of this rare cause of neonatal apnea and hypoventilation as well as described the diagnostic work up to confirm the diagnosis in resource-limited setting where polysomnography for neonate is unavailable. CASE PRESENTATION: A late preterm female newborn born from a non-consanguineous primigravida 31-year-old mother had desaturation soon after birth followed by apnea and bradycardia. After becoming clinically stable, she still had extubation failure from apnea without hypercapnic ventilatory response which worsened during non-rapid eye movement (NREM) sleep. After exclusion of other etiologies, we suspected congenital central hypoventilation syndrome and sent genetic testing. The result showed a PHOX2B gene mutation which confirmed the diagnosis of CCHS. We gave the patient’s caregivers multidisciplinary home respiratory care training including tracheostomy care, basic life support, and simulation training for respiratory problem solving. Then, the patient was discharged and scheduled for follow-up surveillance for associated conditions. CONCLUSION: Diagnosis of CCHS in neonates includes the main clue of the absence of hypercapnic ventilatory response which worsens during non-rapid eye movement (NREM) sleep after exclusion of other causes. Molecular testing for PHOX2B gene mutation was used to confirm the diagnosis. |
format | Online Article Text |
id | pubmed-8867765 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-88677652022-02-25 Rare cause of neonatal apnea from congenital central hypoventilation syndrome Tovichien, Prakarn Rattananont, Krittin Kulthamrongsri, Narathorn Chanvanichtrakool, Mongkol Yangthara, Buranee BMC Pediatr Case Report BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise awareness of this rare cause of neonatal apnea and hypoventilation as well as described the diagnostic work up to confirm the diagnosis in resource-limited setting where polysomnography for neonate is unavailable. CASE PRESENTATION: A late preterm female newborn born from a non-consanguineous primigravida 31-year-old mother had desaturation soon after birth followed by apnea and bradycardia. After becoming clinically stable, she still had extubation failure from apnea without hypercapnic ventilatory response which worsened during non-rapid eye movement (NREM) sleep. After exclusion of other etiologies, we suspected congenital central hypoventilation syndrome and sent genetic testing. The result showed a PHOX2B gene mutation which confirmed the diagnosis of CCHS. We gave the patient’s caregivers multidisciplinary home respiratory care training including tracheostomy care, basic life support, and simulation training for respiratory problem solving. Then, the patient was discharged and scheduled for follow-up surveillance for associated conditions. CONCLUSION: Diagnosis of CCHS in neonates includes the main clue of the absence of hypercapnic ventilatory response which worsens during non-rapid eye movement (NREM) sleep after exclusion of other causes. Molecular testing for PHOX2B gene mutation was used to confirm the diagnosis. BioMed Central 2022-02-24 /pmc/articles/PMC8867765/ /pubmed/35209861 http://dx.doi.org/10.1186/s12887-022-03167-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Tovichien, Prakarn Rattananont, Krittin Kulthamrongsri, Narathorn Chanvanichtrakool, Mongkol Yangthara, Buranee Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title | Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title_full | Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title_fullStr | Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title_full_unstemmed | Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title_short | Rare cause of neonatal apnea from congenital central hypoventilation syndrome |
title_sort | rare cause of neonatal apnea from congenital central hypoventilation syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867765/ https://www.ncbi.nlm.nih.gov/pubmed/35209861 http://dx.doi.org/10.1186/s12887-022-03167-8 |
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