ROHHAD syndrome: case report of an ultra-rare disease

ROHHAD is a poorly studied syndrome characterized by multisystem organ involvement and a high mortality rate. According to the literature, approximately 200 cases of this syndrome are known. ROHHAD syndrome has a presumably autoimmune mechanism of disease development, manifested by rapidly developing morbid obesity, hypothalamic dysfunction, apnea, and impaired autonomic regulation. The wide clinical variability of the syndrome complicates timely diagnosis. This article presents a clinical case of a 6-year-old girl with a rare ROHHAD syndrome and to demonstrate a set of the main clinical symptoms and diagnostic signs of the syndrome, as well as possible therapeutic approaches in the management of this life-threatening disease.