Hyperthyroidism hidden by congenital central hypoventilation syndrome

Fox, D. A.; Weese-Mayer, D. E.; Wensley, D. F.; Stewart, L. L.

J Pediatr Endocrinol Metab. 2015 Jan 13; 28(5-6):705-8


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.

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