Congenital Central Hypoventilation Syndrome Differential Diagnoses

Updated: Apr 21, 2021
  • Author: Amy Brown, MD, MS; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Diagnostic Considerations

Diagnosis of CCHS requires exclusion of other causes of sleep-related hypoventilation and genetic studies supporting a mutation in the PHOX2B gene. 

Differential Diagnoses

  • Apnea of Prematurity

  • Aspiration Syndromes

  • Assisted Ventilation of the Newborn

  • Childhood Sleep Apnea

  • Late Onset Central Hypoventilation Syndrome (LO-CHS)

    This disease is very similar to CCHS in that it is caused by the same mutation in the PHOX2B gene; however these patients have heterozygous mutations for PARM 20/24 or 20/25 and overall present with a milder phenotype than CCHS patients, usually at a much later age.

  • Obesity in Children

  • Pediatric Botulism

  • Pediatric Obesity-Hypoventilation Syndrome

  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysfunction (ROHHAD)

    This is a disorder of early childhood that may have an overlap with CCHS but it is distinct entity. Patients present with rapid onset of obesity, hypothalamic or pituitary endocrine disorders, sleep related hypoventilation and abnormalities of the autonomic nervous system. There is also an associated with neural crest tumors.