Abstract
ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation) is a rare pediatric disorder that is characterized by rapid weight in addition to hypoventilation and hypothalamic and autonomic dysfunction. A definite underlying etiology is not known but genetic and autoimmune/paraneoplastic mechanisms have been postulated. Obesity and respiratory and autonomic dysfunctions are commonly seen in the pediatric population, and due to the rarity of ROHHAD syndrome, the diagnosis can be easily missed. A multisystem presentation including autonomic dysfunction in a child with rapid weight gain should raise the suspicion for ROHHAD syndrome.
In this chapter we have described two patients with ROHHAD syndrome. Using relevant questions we have reviewed the presenting clinical features, underlying pathophysiology, mimics of the condition, commonly associated disorders, and management of ROHHAD syndrome.
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Rathore, G.S., Thompson-Stone, R.I., Benson, L. (2017). Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). In: Waubant, E., Lotze, T. (eds) Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics. Springer, Cham. https://doi.org/10.1007/978-3-319-61407-6_20
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DOI: https://doi.org/10.1007/978-3-319-61407-6_20
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