Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant.

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.

• Authors: Neesha Anand, Roberta M Leu, Dawn Simon, Ajay S Kasi
• Journal: BMJ case reports (BMJ Case Rep) Vol. 14 Issue 3 (Mar 19 2021) ISSN: 1757-790X [Electronic] England
• PMID: 33741569 (Publication Type: Journal Article, Case Reports)
• Copyright: © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• Homeodomain Proteins

Topics

• Apnea
• Homeodomain Proteins (genetics)
• Humans
• Hypoventilation (congenital, diagnosis, genetics)
• Infant
• Mutation
• Sleep Apnea, Central (diagnosis, genetics)