ArticleSleep & breathing = Schlaf & Atmung2015
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Article in Sleep & breathing = Schlaf & Atmung, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Pooled it
- Article
- Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.International journal of environmental research and public health · 2021Review
- A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.Molecular genetics & genomic medicine · 2020Article
- Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020Article
- Adult WithJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2018Article
- Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.American journal of medical genetics. Part A · 2018Article
- Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.American journal of medical genetics. Part A · 2018Article
- Unusual case of central alveolar hypoventilation.Saudi medical journal · 2018Article
- The genetics of congenital central hypoventilation syndrome: clinical implications.The application of clinical genetics · 2018Review
- Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a NovelJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2017Article
- Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.American journal of medical genetics. Part A · 2017Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCongenital central hypoventilation syndrome (CCHS) is a rare lifelong disorder characterized by an abnormal ventilatory response with persistent hypercapnia and hypoxia, which worsen during sleep. About 90 % of CCHS individuals are heterozygous for a mutation in the exon 3 of the PHOX2B gene. With higher awareness and better diagnostic tools, cases are identified in late childhood and adulthood, often with distinct mutations. CLINICAL CASE: The authors present a 4-year-old girl admitted to the intensive care unit at 9, 11 and 13 months suffering from severe hypercapnic respiratory failure during viral respiratory infections. Hypercapnia during sleep improved with wakefulness. CCHS was confirmed genetically (heterozygous insertion of an adenine at position 23, leading to a premature stop codon in exon 1 of the PHOX2B gene). The parents' DNA showed no PHOX2B mutations. Hypoventilation was observed by polysomnography, with no autonomic response to declining oxygen or increasing carbon dioxide values. A subsequent sleep study showed less hypoxia and hypercapnia. The patient has been on non-invasive ventilation during sleep, showing good growth and neurocognitive development. DISCUSSION: A greater awareness is required to diagnose late-onset CCHS. A respiratory infection can trigger the disease, with a significant difference in CO2 between sleep and wakefulness as the warning signal. Given the clinical suspicion, a genetic study should be performed. Polysomnography is essential for patient characterization. Follow-up and ventilator support adjustment prevent serious hypoxia and hypercapnia, which impair cardiovascular and neurocognitive functions. This patient's mutation has not been previously described; hence, clinical evolution cannot be predicted.
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