• Pediatrics · Aug 2014

    Case Reports

    ROHHADNET syndrome presenting as major behavioral changes in a 5-year-old obese girl.

    • Karen Sethi, Yi-Horng Lee, L Eugene Daugherty, Andrea Hinkle, Mahlon D Johnson, Philip J Katzman, and John S Sullivan.
    • Division of Pediatric Critical Care, Department of Pediatrics, karen_sethi@urmc.rochester.edu.
    • Pediatrics. 2014 Aug 1; 134 (2): e586-9.

    AbstractBehavioral issues are a frequent problem in the pediatric population. Often, these are evaluated and considered to be psychiatric in origin. We report on a pediatric patient who presented with severe behavioral disturbance and developed organic symptoms including hypoventilation and dysautonomia and who was ultimately diagnosed with ROHHADNET syndrome, a syndrome of rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with a neuroendocrine tumor. Autopsy findings revealed novel findings of the syndrome, including hypothalamic encephalitis. Copyright © 2014 by the American Academy of Pediatrics.

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