Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?

Journal of Pediatric Endocrinology & Metabolism : JPEM
Ayse Pinar CemerogluLora Kleis

Abstract

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.

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Citations

Oct 23, 2012·Gastrointestinal Endoscopy Clinics of North America·Norelle Rizkalla ReillyPeter H R Green
May 15, 2020·The Journal of Clinical Endocrinology and Metabolism·Julie HarvengtVincent Bours
Sep 30, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Maria FilippidouChristina Kanaka-Gantenbein

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Methods Mentioned

BETA
biopsy

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