title: ROHHAD in a 9-year-old boy — clinical case.
abstract: ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome. ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team.
authors.forename: Karolina
authors.initials: K
authors.lastname: Kot
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Moszczyńska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lecka-Ambroziak
authors.forename: Marek
authors.initials: M
authors.lastname: Migdał
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Szalecki
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001342:Autonomic Nervous System Diseases / Q000503:physiopathology*; D002648:Child; D006801:Humans; D007027:Hypothalamic Diseases / Q000503:physiopathology*; D007040:Hypoventilation / Q000503:physiopathology*; D008297:Male; D009765:Obesity / Q000503:physiopathology*; D013577:Syndrome