Hyperthyroidism hidden by congenital central hypoventilation syndrome

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

doi:10.1515/jpem-2014-0174

Article

Hyperthyroidism hidden by congenital central hypoventilation syndrome

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

Published/Copyright: January 10, 2015

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 28 Issue 5-6

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.

Keywords: cardiac arrhythmia; congenital central hypoventilation syndrome; Grave’s disease; home ventilation; hyperthyroidism; PHOX2B

Corresponding author: Danya A. Fox, Division of Endocrinology, Department of Pediatrics, British Columbia Children’s Hospital, University of British Columbia, Vancouver, Canada, Phone: +604 875 2117, Fax: + 604 875 3231, E-mail: dfox@cw.bc.ca

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Received: 2014-4-27

Accepted: 2014-11-17

Published Online: 2015-1-10

Published in Print: 2015-5-1

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Articles in the same Issue

https://doi.org/10.1515/jpem-2014-0174

Keywords for this article

cardiac arrhythmia; congenital central hypoventilation syndrome; Grave’s disease; home ventilation; hyperthyroidism; PHOX2B