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.
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An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report.
Medicine (Baltimore)
May 2024
Faculty of Medicine, Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Miyazaki, Miyazaki, Japan.
Article Synopsis
- Nonalcoholic steatohepatitis (NASH) can lead to hepatocellular carcinoma (HCC), yet there are no established treatments, and a rare syndrome known as ROHHAD(NET) can complicate this condition.
- The case study details the oldest known autopsy of a patient with ROHHAD(NET) who developed HCC, providing insights into the syndrome's progression and its relationship with NASH and HCC.
- The patient experienced rapid obesity and other severe symptoms since childhood, was diagnosed with cirrhosis at 17 and HCC at 20, underwent treatment, but ultimately died from complications at age 21, with autopsy findings revealing significant necrosis of the cancer.
Autoimmunity related to anti-Na and anti-ZSCAN1 autoantibodies in adipsic hypernatremia.
Endocr J
November 2024
Department of Pediatrics /Department of Medical Genetics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima,734-8551, Japan.
"Adipsic hypernatremia" is clinically characterized by chronic elevation of plasma [Na] with an inappropriate lack of thirst and upward resetting of the osmotic set point for arginine vasopressin (AVP) secretion, combined with a relative deficiency of AVP, thereby resulting in persistent hypernatremia. Many cases are accompanied by structural lesions in the hypothalamus, pituitary gland, and circumventricular organs (CVOs). On the other hand, cases without structural lesions have been reported since the 1970s, but the pathophysiology was unknown for a long time.
View Article and Find Full Text PDFFeasibility, safety, and efficacy of dietary or lifestyle interventions for hypothalamic obesity: A systematic review.
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Princess Máxima Center, Heidelberglaan 25, 3584 CS Utrecht, the Netherlands; Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
Background & Aims: A dysfunctional hypothalamus may result in decreased feelings of satiety (hyperphagia), decreased energy expenditure, and increased fat storage as a consequence of hyperinsulinemia. Hypothalamic dysfunction may thus lead to morbid obesity and can be encountered in childhood as a consequence of congenital, genetic, or acquired disorders. There is currently no effective treatment for hypothalamic obesity (HO).
View Article and Find Full Text PDFThe Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.
Cureus
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Pediatric Pulmonary, Baylor Scott & White Health, Temple, USA.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare disease of concurrent respiratory dysfunction and autonomic dysregulation with endocrine abnormalities. ROHHADNET includes ROHHAD plus coexisting neuroendocrine tumors (NETs). We describe an eight-year-old boy, who originally presented at four years of age with rapid weight gain and hyperhidrosis and who developed mild obstructive sleep apnea (OSA).
View Article and Find Full Text PDFBlood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals.
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August 2023
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16132 Genoa, Italy.
Context: Rapid-onset obesity with central hypoventilation, hypothalamic dysfunction, and autonomic dysregulation with neural crest tumors (ROHHAD-NET) syndrome pathophysiology remains elusive. Acquired neuroimmunological dysfunction has been proposed as a possible pathogenetic pathway.
Objective: The aim of our study was to characterize lymphocyte subpopulations subsets in peripheral blood (PB) and to evaluate a panel of proinflammatory cytokines/chemokines in ROHHAD(NET) patients vs controls.
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