Journal ArticleDOI
Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant.
TLDR
In this article, a 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure, without any signs of respiratory distress requiring initiation of noninvasive positive pressure ventilation (NPPV).Abstract:
A 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure. Examination revealed episodes of apnoea and desaturation to 85% without any signs of respiratory distress requiring initiation of non-invasive positive pressure ventilation (NPPV). Capillary blood gas was indicative of respiratory acidosis and serum bicarbonate was elevated at 35 mmol/L. Chest radiograph, echocardiogram and evaluations for infectious aetiologies resulted normal. Due to inability to wean off NPPV with ensuing apnoea and desaturation, polysomnogram was performed and showed central and obstructive sleep apnoea, hypoxaemia and hypoventilation. Central apnoeas and hypoventilation were worse in non-rapid eye movement sleep. Paired-like homeobox 2B genetic studies showed a novel non-polyalanine repeat mutation (c.429+1G>A) establishing the diagnosis of congenital central hypoventilation syndrome (CCHS). Our case highlights the utility of polysomnography in the evaluation of term infants with apnoea. Although rare, clinicians should consider a diagnosis of CCHS in the evaluation of infants with apnoea and hypoventilation.read more
Citations
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Journal ArticleDOI
Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
TL;DR: In this paper , the authors proposed a multidisciplinary approach for Congenital Central Hypoventilation Syndrome (CCHS) patients, which is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B gene.
Journal ArticleDOI
A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders
Jan-Marino Ramirez,Michael S. Carroll,Nicholas J. Burgraff,Casey M. Rand,Debra E. Weese-Mayer +4 more
Journal ArticleDOI
Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes
TL;DR: In this article , the authors conducted a retrospective study of patients with Congenital Central Hypoventilation syndrome (CCHS) treated at an institution between January 1997 and May 2022.
Journal ArticleDOI
Images: Caffeine therapy for central sleep apnea, hypoxemia, and hypoventilation in a term neonate.
TL;DR: In this article , a 7-day-old term neonate with oxygen desaturations during sleep was evaluated for BRUE with mild obstructive sleep apnea (OSA).
References
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Journal ArticleDOI
An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Isabella Ceccherini,Thomas G. Keens,Darius A. Loghmanee,Ha Trang +5 more
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
Journal ArticleDOI
Congenital Central Hypoventilation Syndrome
TL;DR: These data suggest that nonpolyalanine repeat mutations produce more severe disruption of PHOX2B function and patients carrying these mutations should be evaluated for HSCR and neural crest tumors.
Journal ArticleDOI
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
Jerome O. Gronli,Barbara A. Santucci,Sue Leurgans,Elizabeth Berry-Kravis,Debra E. Weese-Mayer +4 more
TL;DR: Children with Congenital Central Hypoventilation Syndrome have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/dysfunction (ANSD) phenotype and it is hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD.
Journal ArticleDOI
Mother–Daughter Transmission of Congenital Central Hypoventilation Syndrome
TL;DR: It is concluded that CCHS may be an inherited disorder, and increased endogenous progesterone during pregnancy has no effect on the ventilatory response, and diaphragm pacing can successfully provide adequate ventilation throughout pregnancy.
Journal ArticleDOI
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Ha Trang,Martin Samuels,Isabella Ceccherini,Matthias Frerick,María Ángeles García-Teresa,Jochen Peters,Johannes Schoeber,Marek Migdal,Agneta Markstrom,Giancarlo Ottonello,Raffaele Piumelli,Maria Helena Estevao,Irena Senecic-Cala,Barbara Gnidovec-Strazisar,Andreas Pfleger,Raquel Porto-Abal,Miriam Katz-Salamon +16 more
TL;DR: A state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research are provided.