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01-11-2012 | Clinical Brief

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation

Authors: Lokesh Lingappa, Nalini Kanth Panigrahi, Dinesh Kumar Chirla, Sarah Burton-Jones, Margaret M Williams

Published in: Indian Journal of Pediatrics | Issue 11/2012

Abstract

A term baby developed hypoventilation on day 1 of life requiring mechanical ventilation and had subsequent difficulty in weaning. Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. In view of persistent hypoventilation despite raised pCO₂ levels in absence of any sedation, the diagnosis of Idiopathic. Congenital Central Hypoventilation Syndrome (CCHS) was considered. The baby was tested for Paired-like Homeobox 2B (PHOX2B) gene mutation and was found to have expanded alleles containing 10 polyalanine repeats producing genotype of 20/30 on chromosome 4p12 (The normal being 20/20). This is the first report of a neonate from India with genetically confirmed CCHS.

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Title: Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation
Authors: Lokesh Lingappa
Nalini Kanth Panigrahi
Dinesh Kumar Chirla
Sarah Burton-Jones
Margaret M Williams
Publication date: 01-11-2012
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 11/2012
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-012-0789-6

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Springer Medicine

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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