ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

Kocaay P., Siklar Z., Camtosun E., Kendirli T., Berberoglu M.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, sa.4, ss.254-257, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1432
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.254-257
  • Anahtar Kelimeler: ROHHAD syndrome, obesity, hypothalamic dysfunction, ONSET CENTRAL HYPOVENTILATION, HYPOTHALAMIC DYSFUNCTION, AUTONOMIC DYSREGULATION, NEUROBLASTOMA
  • İnönü Üniversitesi Adresli: Hayır

Özet

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.