Dr Akshay Kishore ,Dr.Sajith Kesavan , DR C Jayakumar AIMS kochi
Two months old of a non consanguineous parentage child with uneventful antenatal history , and no significant family history ,Term/AGA presented with fever, breathing difficulty on day 3 of life. As ba was desaturated child was ventilated.Due to recurrent apneic episodes ba was started on CPAP. Differentials 1. Suspected sepsis 2. Genetic 3. Inborn errors of metabolism 4. Congenital central hypoventilarion syndrome Labs CRP,CBC normal Chest X-ray showed increased bronchi vascular marking bilaterally. ECHO structurally normal heart. TMS/GCMS was negative. MRI brain was normal. CSF normal. USG abdomen normal. Ba required NIV during sleep. Genetic workup showed heterozygous in frame duplication observed in 20 alanine stretch of PHOX 2B gene mutation , the patient is positive for common polyalanine repeat expansion mutation which was suggestive of congenital central hypoventilation syndrome. Ba was discharged on continuous BiPAP when sleeping during day and night. Now ba is 1 year old with a weight of 10kg. Ba is planned for tracheostomy ventilation if there is any apnoea noted during awake period. Discussion : Congenital central hypoventilation syndrome (CCHS) represent the extreme manifestation of autonomic nervous system dysregulation and hallmark of disordered respiratory control. It’s rare disorder and only 1000 cases were reported in the world literature and only 10 cases are reported from India. It comes under the rare disease category. They usually presents with apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep on while awake. Diagnosis is made identifying PHOX2B pathogenic variant in genetic testing. With treatment they can survive till adulthood. Associated abnormalities are Hirshprungs disease Pupillary abnormality Cardiac arrhythmia Hyperinsulinemic hypoglycemia All children need yearly 72 hour Holter monitoring These children need close especially underwater ,as they forget to breathe CCHS is a lifelong condition, but with proper treatment it does not alter life expectancy. What is new ? Surgical implant in the diaphragm allow electrical stimulation of the muscle to control breathing can be done Carry home message : It is always better to keep CCHS as a differential diagnosis in my mind if a ba presents with recurrent unexplained apnoea with desaturation.