Hyperthyroidism hidden by congenital central hypoventilation syndrome

Danya A. Fox*, Debra E. Weese-Mayer, David F. Wensley, Laura L. Stewart

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (PHOX2B). In addition to hypoventilation, patients with CCHS display a wide array of autonomic nervous system abnormalities, including decreased heart rate variability and abrupt sinus pauses, esophageal dysmotility, abnormal pupillary light response, and temperature dysregulation, to name a few. To date, there has been no documentation of a child with both CCHS and hyperthyroidism. We report the case of a young child with CCHS who presented with tachycardia, which was later found to be due to Grave's disease, after many months of investigation.

Original languageEnglish (US)
Pages (from-to)705-708
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number5-6
StatePublished - May 1 2015


  • Grave's disease
  • PHOX2B
  • cardiac arrhythmia
  • congenital central hypoventilation syndrome
  • home ventilation
  • hyperthyroidism

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism


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