ESPE Abstracts (2015) 84 P-3-898

A Case of Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysregulation and Neuroendocrine Tumours-ROHHADNET Syndrome

Navoda Atapattua, Lalitha Dissanayakab & S Arulmolic

aLady Ridgeway Hospital, Colombo, Sri Lanka; bBase Hospital Mannar, Mannar, Sri Lanka; cTeaching Hospital Jaffna, Jaffna, Sri Lanka

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHADNET) is a rare disorder which presents in early childhood.

Case presentation: Four years old girl was referred to endocrinology unit with a history of excessive weight gain. Parents noticed a rapid weight gain from 3 years of age with increase food seeking behaviour and daytime somnolence. Her weight was >95th centile and her height was on 25th centile. Bone age was 1 year and 6 months at the chronological age of 4 years 2 months. Ultrasound scan of the abdomen revealed a mixed echogenic lesion in right suprarenal area. Right kidney was 8.1 cm and left kidney was 7.6 cm. She had normal endocrine work up. Urinary Vanyllylmandelic acid levels were with thin normal range. Her blood pressure was normal. She underwent tumour excision and histology confirmed ganglioneuroma. During surgery she had excessive bleeding. Post operatively she was found to have hypertension. She admitted with repeated episodes chest infections due to hypoventilation and frequent febrile episodes without any focus of infection. Subsequent ultrasound scan revealed small kidney on right side and dimercaptosuccinic acid (DMSA) scan revealed a nonfunctioning right kidney most likely due to ischemic infarction of the right kidney during surgery. Child’s blood pressure is controlled with two anti hypertensives.

Conclusion: Child is under close follow up for developing endocrinopathies. Hypoventilation results in repeated infections and child needs oxygen and antibiotics during such episodes. Overall she has a poor quality of life. Hypertension has resulted as a part of surgical complication rather than the disease. Great clinical suspicion is needed to diagnose this condition with increased morbidity and mortality.

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