Endocrine Abstracts

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dys-regulation) syndrome is an uncommon disease with fatal outcome. Rapidly progressive obesity in early childhood along with altered hypothalamic and autonomic function and hypoventilation are characteristic features. Neuroendocrine tumors complicate approximately 40% of the ROHHAD cases (ROHHAD-NET). Early diagnosis of this extreme rare disease is hampered by the absence of high degree of suspicion. Here we describe a child with ROHHAD-NET syndrome who presented with rapidly progressive obesity along with uncontrolled hypertension.

Case report: Two year and a half years old baby girl presented with recent onset of increasing weight gain. Her weight has been rapidly crossing the centile over the last 6 months while hight follows the normal centile. Her condition was associated with sleepiness, lethargy, excessive sweating, tachycardia and hyperphagia. She was borne to non-consanguineous parents via normal delivery with birth weight of 3.150 kg. Her development milestone was age appropriate. On examination, weight was above the 95th centile and height rests on the 3rd centile. Neither cushinoid nor dysmorphic features were observed. She was hypertensive with blood pressure above 95th centile. Right suprarenal soft tissue lesion was observed in abdominal ultra sound scan which was confirmed by contrast enhanced CT abdomen. It revealed heterogenous solid soft tissue mass at the right adrenal area with fine calcification that suggestive of neuroblastoma or ganglioneuroma. Her condition was confirmed as ganglion neuroblastoma by histopathology after tumour resection. Subsequently, child successfully underwent chemotherapy and her follow up ultrasound scan urinary VMA and pituitary functions were normal.

Conclusion: ROHHADNET syndrome present with rapidly progressive obesity in early childhood and autonomic dysregulation. Timely diagnosis requires a high degree of suspicion for cases that present with an unexplained rapid-onset obesity. This case highlights the value of screening for neuroendocrine tumors in suspected patients of ROHHAD syndrome.