title: Hyperthyroidism hidden by congenital central hypoventilation syndrome.
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.
authors.forename: Danya A
authors.initials: DA
authors.lastname: Fox
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
authors.forename: David F
authors.initials: DF
authors.lastname: Wensley
authors.forename: Laura L
authors.initials: LL
authors.lastname: Stewart
mesh_terms: D002675:Child, Preschool; D005260:Female; D006111:Graves Disease / Q000150:complications*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D020182:Sleep Apnea, Central / Q000150:complications* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors