ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2014; 6(4): 254-257 | DOI: 10.4274/jcrpe.1432

ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

Pınar Kocaay1, Zeynep Şıklar1, Emine Çamtosun1, Tanıl Kendirli2, Merih Berberoğlu1
1Ankara University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
2Ankara University Faculty Of Medicine, Department Of Pediatric Intensive Care, Ankara, Turkey

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction.

Keywords: ROHHAD syndrome,obesity,hypothalamic dysfunction

Pınar Kocaay, Zeynep Şıklar, Emine Çamtosun, Tanıl Kendirli, Merih Berberoğlu. ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity. J Clin Res Pediatr Endocrinol. 2014; 6(4): 254-257
Manuscript Language: English
LookUs & Online Makale