ROHHADNET Syndrome Presenting as Major Behavioral Changes in a 5-Year-Old Obese Girl

Abstract

Behavioral 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.

Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide

“…2,[7][8][9] The association with neural crest tumors suggests an immune-mediated process resembling opsoclonus myoclonus ataxia syndrome. 2,5,7,10 Lymphocytic infiltration of the brain, 11,12 presence of oligoclonal bands in the cerebrospinal fluid, 13 and response to immunomodulary therapy 5,14 support an autoimmune process.…”

ROHHAD syndrome: The girl who forgets to breathe

“…Though documented, it is unusual for these patients to present initially with such symptoms [6]. Hyperphagia, leading to obesity, is often the earliest manifestation of this condition.…”

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

“…Since the course of clinical presentations is very variable and unpredictable, and because endocrinal symptoms may not be found in some patients like ours, or may develop late after years of manifested alveolar hypoventilation [9], we suggest that any rapid gain of weight in an otherwise healthy child after the age of 2 should be regarded and treated as ROHHAD syndrome.…”