Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare and potentially lethal disorder. The etiology is unclear but paraneoplastic syndrome and autoimmunity secondary to neural crest tumors have been considered, even in patients without any detectable tumor due to their tendency for spontaneous remission. We are presenting a 13-year-old girl with ROHHAD syndrome and celiac disease, which may suggest further evidence for immune-mediated etiology in the pathogenesis of ROHHAD syndrome.
Ayse Pinar
AP
Cemeroglu
Donna S
DS
Eng
Laura A
LA
Most
Carrissa M
CM
Stalsonburg
Lora
L
Kleis
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000473:pathology*; D017668:Age of Onset; D015551:Autoimmunity; D001342:Autonomic Nervous System Diseases / Q000473:pathology*; D002446:Celiac Disease / Q000473:pathology*; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000473:pathology*; D007040:Hypoventilation / Q000473:pathology*; D009765:Obesity / Q000175:diagnosis*; D013577:Syndrome