ROHHAD Syndrome – Focus on Endocrine Abnormalities and Precocious Puberty

Abstract

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare disease, with around 200 cases described worldwide. Other clinical manifestations may be pulmonary hypertension, cough, recurrent upper respiratory tract infections, metabolic disorders. Objective: The aim of this article was to present a case of ROHHAD syndrome, a very rare disorder with multisystemic involvement and an unknown etiology. Case report: We present the case of an 11-year-old girl with ROHHAD syndrome. The disease was diagnosed at the age of 3.5 years when she was hospitalized due to obesity, adynamia, hyponatremia, and a convulsion. An electroencephalogram (EEG) recording showed epileptic brain activity, and antiepileptic therapy was initiated. Diagnostic tests revealed the presence of a tumor mass in the abdomen, which was surgically removed. Histopathology confirmed malignant ganglioneuroblastoma. The girl received chemotherapy according to the protocol. Genetic analysis of the patient showed no genetic predisposition to the onset of the disease. At the age of 8.5, she was hospitalized again due to vaginal bleeding. Endocrinological evaluation revealed precocious puberty, absolute growth hormone deficiency (although growth was at the 25th percentile), and hypothyroidism. Growth hormone, luteinizing hormone-releasing hormone (LH-RH) analogue, and Levothyroxine were included in therapy. The precocious puberty episodes have been stopped, and she no longer receives LH-RH analog. Levothyroxine, growth hormone, and antiepileptic drugs are continued in the therapy. The girl has no cognitive disorders, achieves good results in school, and her current growth chart values are within the reference values for her age. Conclusion: ROHHAD syndrome is a rare disease, with around 200 cases described worldwide. The disease can lead to severe complications, including intellectual impairment and death. The diagnosis is made on the basis of clinical manifestations, and the therapy requires a multidisciplinary approach.