Rare cause of neonatal apnea from congenital central hypoventilation syndrome
Abstract 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 h...
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| Format: | Article |
| Language: | English |
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BMC
2022-02-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03167-8 |
| _version_ | 1818501039339339776 |
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| author | Prakarn Tovichien Krittin Rattananont Narathorn Kulthamrongsri Mongkol Chanvanichtrakool Buranee Yangthara |
| author_facet | Prakarn Tovichien Krittin Rattananont Narathorn Kulthamrongsri Mongkol Chanvanichtrakool Buranee Yangthara |
| author_sort | Prakarn Tovichien |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-10T20:50:46Z |
| format | Article |
| id | doaj.art-162759dcdc5c4ab59d86337d45da445b |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-10T20:50:46Z |
| publishDate | 2022-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-162759dcdc5c4ab59d86337d45da445b2022-12-22T01:34:05ZengBMCBMC Pediatrics1471-24312022-02-012211610.1186/s12887-022-03167-8Rare cause of neonatal apnea from congenital central hypoventilation syndromePrakarn Tovichien0Krittin Rattananont1Narathorn Kulthamrongsri2Mongkol Chanvanichtrakool3Buranee Yangthara4Division of Pulmonology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol UniversityFaculty of Medicine Siriraj Hospital, Mahidol UniversityFaculty of Medicine Siriraj Hospital, Mahidol UniversityDivision of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol UniversityDivision of Neonatology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol UniversityAbstract 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.https://doi.org/10.1186/s12887-022-03167-8Case reportcogenital central hypoventilation syndromeCCHSneonatal apneaPHOX2B |
| spellingShingle | Prakarn Tovichien Krittin Rattananont Narathorn Kulthamrongsri Mongkol Chanvanichtrakool Buranee Yangthara Rare cause of neonatal apnea from congenital central hypoventilation syndrome BMC Pediatrics Case report cogenital central hypoventilation syndrome CCHS neonatal apnea PHOX2B |
| 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 cogenital central hypoventilation syndrome CCHS neonatal apnea PHOX2B |
| url | https://doi.org/10.1186/s12887-022-03167-8 |
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