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

AbstractRapid-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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A Case of Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neural Crest Tumor: Rohhadnet Syndrome

Endocrine Practice ◽

10.4158/ep12140.cr ◽

2013 ◽

Vol 19 (1) ◽

pp. e12-e16 ◽

Cited By ~ 19

Author(s):

Ayhan Abaci ◽

Gonul Catli ◽

Erhan Bayram ◽

Tolga Koroglu ◽

Hatice Olgun ◽

...

Keyword(s):

Neural Crest ◽

Rapid Onset ◽

Autonomic Dysregulation ◽

Hypothalamic Dysfunction

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ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgaa247 ◽

2020 ◽

Vol 105 (7) ◽

pp. 2119-2131 ◽

Cited By ~ 1

Author(s):

Julie Harvengt ◽

Caroline Gernay ◽

Meriem Mastouri ◽

Nesrine Farhat ◽

Marie-Christine Lebrethon ◽

...

Keyword(s):

Systematic Review ◽

Early Diagnosis ◽

Individual Patient Data ◽

Psychiatric Symptoms ◽

Clinical Manifestations ◽

Rapid Onset ◽

Patient Data ◽

Autonomic Dysregulation ◽

Hypothalamic Dysfunction

Abstract Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Objective The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. Design We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. Methods All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. Results Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. Conclusion Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.

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