Literature DB >> 25049346

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

Karen Sethi1, Yi-Horng Lee2, L Eugene Daugherty3, Andrea Hinkle3, Mahlon D Johnson4, Philip J Katzman4, John S Sullivan3.   

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.
Copyright © 2014 by the American Academy of Pediatrics.

Entities:  

Keywords:  ROHHADNET

Mesh:

Year:  2014        PMID: 25049346     DOI: 10.1542/peds.2013-2582

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  8 in total

1.  Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Authors:  Vidhu V Thaker; Kristyn M Esteves; Meghan C Towne; Catherine A Brownstein; Philip M James; Laura Crowley; Joel N Hirschhorn; Sarah H Elsea; Alan H Beggs; Jonathan Picker; Pankaj B Agrawal
Journal:  J Clin Endocrinol Metab       Date:  2015-03-17       Impact factor: 5.958

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

Authors:  Lisa A Jacobson; Shruti Rane; Lisa J McReynolds; Diana A Steppan; Allen R Chen; Ido Paz-Priel
Journal:  Pediatrics       Date:  2016-06-16       Impact factor: 7.124

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

Authors:  Lama Aljabban; Lina Kassab; Nour Alhuda Bakoura; Mohammad Fayez Alsalka; Ismaeil Maksoud
Journal:  J Med Case Rep       Date:  2016-11-22

4.  Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

Authors:  Jiwon M Lee; Jaewon Shin; Sol Kim; Heon Yung Gee; Joon Suk Lee; Do Hyeon Cha; John Hoon Rim; Se-Jin Park; Ji Hong Kim; Ahmet Uçar; Andreas Kronbichler; Keum Hwa Lee; Jae Il Shin
Journal:  Biomed Res Int       Date:  2018-11-21       Impact factor: 3.411

5.  ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Authors:  Sarah F Barclay; Casey M Rand; Lisa Nguyen; Richard J A Wilson; Rachel Wevrick; William T Gibson; N Torben Bech-Hansen; Debra E Weese-Mayer
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

6.  Case Report: COVID-19-Associated ROHHAD-Like Syndrome.

Authors:  Irina N Artamonova; Natalia A Petrova; Natalia A Lyubimova; Natalia Yu Kolbina; Alexander V Bryzzhin; Alexander V Borodin; Tatyana A Levko; Ekaterina A Mamaeva; Tatiana M Pervunina; Elena S Vasichkina; Irina L Nikitina; Anna M Zlotina; Alexander Yu Efimtsev; Mikhail M Kostik
Journal:  Front Pediatr       Date:  2022-03-31       Impact factor: 3.418

7.  ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.

Authors:  Caleigh Mandel-Brehm; Leslie A Benson; Baouyen Tran; Mark P Gorman; Joseph L DeRisi; Andrew F Kung; Sabrina A Mann; Sara E Vazquez; Hanna Retallack; Hannah A Sample; Kelsey C Zorn; Lillian M Khan; Lauren M Kerr; Patrick L McAlpine; Lichao Zhang; Frank McCarthy; Joshua E Elias; Umakanth Katwa; Christina M Astley; Stuart Tomko; Josep Dalmau; William W Seeley; Samuel J Pleasure; Michael R Wilson
Journal:  Ann Neurol       Date:  2022-05-25       Impact factor: 11.274

8.  Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation syndrome.

Authors:  Ismaeil Maksoud; Lina Kassab
Journal:  Avicenna J Med       Date:  2015 Jul-Sep
  8 in total

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