“Where the Body Forgets to Breathe” Congenital Central Hypoventilation Syndrome

Authors

  • Preetha Remesh Aster MIMS, Kozhikode, Kerala, India
  • MR Anand Aster MIMS, Kozhikode, Kerala, India
  • Divia Nath Aster MIMS, Kozhikode, Kerala, India
  • PT Vishnumohan Aster MIMS, Kozhikode, Kerala, India
  • Divia Pachat Aster MIMS, Kozhikode, Kerala, India

DOI:

https://doi.org/10.52314/fnb.2022.v2i1.26

Keywords:

Central hypoventilation, Apnea, PHOX2B

Abstract

Congenital central hypoventilation syndrome (CCHS), also referred to as Ondine’s curse, is a rare, life-threatening disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep.1,2 Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. Until recently, this has been a diagnosis of exclusion; however recent literature has implicated a genetic etiology.1-5
We report a case of CCHS who presented on day D4 of life with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis could be confirmed by a PHOX2B sequence analysis.

Author Biographies

Preetha Remesh, Aster MIMS, Kozhikode, Kerala, India

MRCPCh, Department of Neonatology

MR Anand , Aster MIMS, Kozhikode, Kerala, India

Department of Neonatology,


Divia Nath, Aster MIMS, Kozhikode, Kerala, India

DNB, Department of Neonatology

PT Vishnumohan , Aster MIMS, Kozhikode, Kerala, India

MD, Department of Neonatology

Divia Pachat, Aster MIMS, Kozhikode, Kerala, India

MD, Fellowship in Genetics, Department of Neonatology

Published

2022-05-23

How to Cite

1.
Remesh P, Anand M, Nath D, Vishnumohan P, Pachat D. “Where the Body Forgets to Breathe” Congenital Central Hypoventilation Syndrome. FNB [Internet]. 2022 May 23 [cited 2022 Oct. 3];2(1):15-7. Available from: https://www.fetusandnewborn.com/journal/index.php/fnb/article/view/26