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Source publication
ROHHADNET syndrome is characterized by rapid-onset-obesity, hypoventilation, hypothalamic dysregulation, autonomic dysfunction and neural tumors. A 2.4-year-old girl presented with inability to be aroused from sleep. She was obese, obtunded, hypoventilating with severe hypercarbia. Non-invasive ventilation (NIV) was started following which her sens...
Context in source publication
Context 1
... the constellation of symptoms, ROHHADNET syndrome was considered and screening thoracic and abdominal CT was performed to look for any neural crest tumor. CT revealed an FDG avid, homogenously enhancing mass in pre-sacral area on left side, posterior to rectum (Figure 2 and 3). In view of hypertension and neurogenic tumor, urinary catecholamines and metanephrines were done, which were normal (Table 1). ...
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Background and aim:
ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome is a rare disease with grave outcome. Although early recognition is essential, prompt diagnosis may be challenging due to its extreme rarity. This study aimed to systematically review its clinical manifesta...
