Abstract Ref Number = APCP902
ROHHADNET SYNDROME PRESENTING WITH A RETROPERITONEAL MASS A CASE REPORT
Sumudu Seneviratne,Watsala Hathagoda,Pujitha Wickramasinghe,Mahendra Somathilekha,Malik Samarasekera
Department of Paediatrics Faculty of Medicine University of Colombo Department of Paediatrics, Faculty of Medicine University of Colombo Cancer Institute Maharagama Department of Surgery, Faculty of Medicine University of Colombo
Background : ROHHAD-NET syndrome is defined by Rapid-onset Obesity, Hypoventilation, Hypothalamic dysfunction, Autonomic Dysregulation associated with Neuro-Endocrine Tumour. We describe a 4.5-year-old girl presenting with a retroperitoneal mass, in whom a history of rapid onset obesity, hyperphagia and behavioral changes led to a diagnosis of ROHHADNET pre- operatively.
Case Presentation Summary : A 4.5-year-old girl was transferred for further evaluation and management of a retroperitoneal mass. She had been healthy up to 3.5 years of age, but had developed rapid weight gain over the past year, associated with hyperphagia. She had also shown behavioral changes including irritability and anger, recurrent ‘respiratory infections’ and sleep disturbance, as well as increased thirst and increased urine output in the past few months. Her weight for age was above 97th centile, height between 25th to 50th centile, and BMI above +2SD for age. CT scan of the thorax and abdomen revealed a paravertebral soft tissue mass, reported as suggestive of neuroblastoma. However urinary VMA levels, MRI brain and Tc99 bone scan were normal. Endocrine functions including thyroid function tests, serum cortisol, serum and urine osmolality were normal, although she demonstrated intermittent polyuria. In view of the possibility of ROHADNET, multi-disciplinary care was provided with discussions and close co-ordination between Paediatric oncology endocrinology, surgical and anesthetic teams, and the tumor was resected uneventfully. The parents were counselled regarding the child’s condition, and the child will be followed up closely to monitor for development of other complications of the syndrome.
Learning Points/Discussion : Although it is a very rare condition, ROHHAD syndrome must be considered in the differential diagnosis of any case with rapid onset obesity associated with hypothalamic-pituitary endocrine dysfunction. Improved awareness and better understanding of the natural history and outcome of ROHHAD will guide management and facilitate optimal patient care.
Keywords: ROHHADNET Neuro-endocrine tumour Rapid-onset obesity hypothalamic dysfunction