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  • Title: Hyperthyroidism hidden by congenital central hypoventilation syndrome.
    Author: Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.
    Journal: J Pediatr Endocrinol Metab; 2015 May; 28(5-6):705-8. PubMed ID: 25581741.
    Abstract:
    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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