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PP-051 Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysfunction (ROHHAD)
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  1. AbdulKarim AlMakadma
  1. Alfaisal University

Abstract

Aim To Report a rare and interesting case.

Material and Method Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysfunction (ROHHAD) is a rare syndrome that was initially described more than 50 years ago. However, the term ROHHAD and its criteria for diagnosis were not distinguished as a separate entity except in 2007. (Fishman LS) (Ize-Ludlow D). To date, literature shows fewer than 100 cases were described in the literatures. Despite that there is no diagnostic test that can detect ROHHAD; Keeping it in mind while excluding other etiologies is important; since the prognosis of ROHHAD mainly depends on how early, the case is diagnosed and managed in the aims to decrease severe complications and mortality. Symptoms of the disease, particularly rapid weight gain, can present as early as one year and a half of age, followed by gradually developing symptoms of hypothalamic dysfunction, autonomic dysregulation, and hypoventilation, leading the parents to seek medical attention. Currently, management of ROHHAD syndrome is largely symptomatic, focusing mainly on improving the quality of life and preventing potentially fatal sequelae in patients with this disease. As for medical management, clinical trials are still ongoing.

Results In this paper, we report a case of a 3-year-old girl who initially presented with rapid-onset obesity followed by multiple features of ROHHAD symptoms over time.

Conclusions In this paper, we aim to raise awareness of the presence of such cases in our community and to increase knowledge about the management of such cases.

  • Obesity
  • hypoventilation
  • hypothalamic
  • autoimmune

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