| Popis: |
ROHHAD syndrome is a rare disorder characterized by rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. More than 100 cases have been reported in the literature since its first description in 1965. An estimated 40% of cases are associated with neuroendocrine tumors (NET) (Sirvent Med Pediatr Oncol 40:326–328, 2003). Features of ROHHAD overlap in limited features with congenital central hypoventilation syndrome (CCHS) and obesity syndromes such as Prader-Willi syndrome (PWS), and thus, it is important to be able to clinically differentiate these syndromes. The etiology of ROHHAD remains unknown, although genetic, epigenetic, autoimmune, and paraneoplastic factors have been implicated. Due to the requirement of ventilatory support and potential mortality from cardiorespiratory arrest, it is critical to make a prompt diagnosis. |
