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Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation

The Indian Journal of Pediatrics volume 79, pages 1526–1528 (2012)Cite this article

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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Contributions

NKP, DKC and LL; Involved in the management of the child, NKP; Prepared the manuscript,LL,Finalised the manuscript,SBJ and MMW; Did the genetic testing and provided the details of methodology of testing.

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Affiliations

  1. Division of Pediatric and Neonatal Neurology, Rainbow Children’s Hospital and Perinatal Centre, Hyderabad, India

    Lokesh Lingappa

  2. Division of Neonatology, Rainbow Children’s Hospital and Perinatal Centre, Hyderabad, India

    Nalini Kanth Panigrahi & Dinesh Kumar Chirla

  3. Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK

    Sarah Burton-Jones & Margaret M Williams

  4. Department of Pediatric Neurology, Rianbow Children’s Hospital and Perinatal Centre, Road no 10, Banjara Hills, Hyderabad, Andhra Pradesh, 500034, India

    Lokesh Lingappa

Authors
  1. Lokesh Lingappa
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  2. Nalini Kanth Panigrahi
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  3. Dinesh Kumar Chirla
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  4. Sarah Burton-Jones
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  5. Margaret M Williams
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Correspondence to Lokesh Lingappa.

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Lingappa, L., Panigrahi, N.K., Chirla, D.K. et al. Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation. Indian J Pediatr 79, 1526–1528 (2012). https://doi.org/10.1007/s12098-012-0789-6

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  • DOI: https://doi.org/10.1007/s12098-012-0789-6

Keywords

  • Congenital central hypoventilation syndrome
  • CCHS
  • PHOX2B gene