Case Report: First description of an intracranial "NET" in ROHHAD syndrome; time to rename to the ROHHAD-NeCT...

In around 50% of patients with Rapid-onset Obesity Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) syndrome, a neuro-endocrine tumor (NET) is found. Reported NETS are (ganglio)neuroblastoma or ganglioneuroma located extracranially. Here, we report for the first time a young patient with signs and symptoms fitting the criteria of ROHHAD syndrome in whom an intracranial ganglion cell tumor was found, pathologically resembling the reported extracranial NETs. Our finding leads to the discussion of whether the NET in ROHHAD-NET syndrome should be classified as true NET or should be classified as Neural Crest Tumor (NeCT). Our case highlights the difficulty of the diagnosis of ROHHAD syndrome and the importance of screening for both extra- and intracranial Neural Crest Tumors in patients with rapid onset obesity at young age.