Hyperthyroidism hidden by congenital central hypoventilation syndrome.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM(2015)
摘要
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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关键词
cardiac arrhythmia,congenital central hypoventilation syndrome,Grave's disease,home ventilation,hyperthyroidism,PHOX2B
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