Περίληψη:
Objectives: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome. Case presentations: We describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome. Conclusions: The rarity of the syndrome, the variable symptoms' presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome. © 2020 De Gruyter. All rights reserved.
Συγγραφείς:
Filippidou, M.
Petropoulou, T.
Botsa, E.
Vasilakis, I.-A.
Smyrnaki, P.
Orfanou, I.
Kaditis, A.
Kanaka-Gantenbein, C.
Λέξεις-κλειδιά:
fluoxetine; follitropin; luteinizing hormone; metformin; prolactin; thyrotropin; thyroxine, ankle arthritis; Arnold Chiari malformation; Article; autonomic dysfunction; bilevel positive airway pressure; biochemical analysis; case report; child; childhood obesity; clinical article; clinical examination; clinical feature; early diagnosis; echography; female; hormone substitution; human; hypernatremia; hypothalamus disease; hypoventilation; impaired glucose tolerance; nonalcoholic fatty liver; nuclear magnetic resonance imaging; pneumonia; polyuria; preschool child; psychosis; rapid onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation syndrome; respiratory acidosis; school child; secondary amenorrhea; thermal injury; unconsciousness; urine incontinence; adolescent; autonomic neuropathy; childhood obesity; complication; hypothalamus disease; obesity hypoventilation syndrome; pathology; prognosis, Adolescent; Autonomic Nervous System Diseases; Child; Child, Preschool; Female; Humans; Hypothalamic Diseases; Obesity Hypoventilation Syndrome; Pediatric Obesity; Prognosis
