{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:27:19Z","timestamp":1793039239194,"version":"4.5.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0085_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0085_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Management is\u00a0largely supportive. We report a case of a five-year old female who presented in respiratory arrest after 6-months of rapid weight gain. She had central hypoventilation, central diabetes insipidus, growth hormone deficiency and hyperprolactinaemia. She displayed elevated interleukin-6 levels on cytokine serology which normalised after rituximab treatment. After rituximab treatment, her weight reduced significantly from greatly above the 99.6th to the 50th centile in 12\u00a0months.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0085_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This response possibly reflects an\u00a0underlying, immune-inflammatory pathology driving excess adiposity in this condition. Potentially, other aspects of ROHHAD(NET) may be mediated through autoimmune dysregulation in which case rituximab may provide benefits for prognosis and survival.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0085","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T09:02:02Z","timestamp":1651050122000},"page":"1102-1106","source":"Crossref","is-referenced-by-count":17,"title":["Rituximab therapy in ROHHAD(NET) syndrome"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9448-0935","authenticated-orcid":false,"given":"Katherine A.C.","family":"Hawton","sequence":"first","affiliation":[{"name":"Bristol Royal Hospital for Children , Bristol , UK"},{"name":"University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Doffinger","sequence":"additional","affiliation":[{"name":"Cambridge University Hospitals NHS Foundation Trust , Cambridge , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athimalaipet V.","family":"Ramanan","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children , Bristol , UK"},{"name":"University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon C.","family":"Langton Hewer","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children , Bristol , UK"},{"name":"University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazel J.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Respiratory Paediatrics , Southampton Children\u2019s Hospital , Southampton , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinesh","family":"Giri","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children , Bristol , UK"},{"name":"University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian P.","family":"Hamilton Shield","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre (Nutrition Theme), University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,4,26]]},"reference":[{"key":"2023033122070768636_j_jpem-2022-0085_ref_001","doi-asserted-by":"crossref","unstructured":"Reppucci, D, Hamilton, J, Yeh, E, Katz, S, Al-Saleh, S, Narang, I. ROHHAD syndrome and evolution of sleep disordered breathing. Orphanet J Dare Dis 2016;11:106. https:\/\/doi.org\/10.1186\/s13023-016-0484-1.","DOI":"10.1186\/s13023-016-0484-1"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_002","doi-asserted-by":"crossref","unstructured":"Harvengt, J, Gernay, C, Mastouri, M, Farhat, N, Lebrethon, M, Seghaye, M, et al.. ROHHAD(NET) syndrome: systematic review of the clinical timeline and recommendations for diagnosis and prognosis. J Clin Endocr Metab 2020;105:2119. https:\/\/doi.org\/10.1210\/clinem\/dgaa247.","DOI":"10.1210\/clinem\/dgaa247"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_003","doi-asserted-by":"crossref","unstructured":"Bougn\u00e8res, P, Pantalone, L, Linglart, A, Rothenb\u00fchler, A, Le Stunff, C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocr Metab 2008;93:3971\u201380. https:\/\/doi.org\/10.1210\/jc.2008-0238.","DOI":"10.1210\/jc.2008-0238"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_004","doi-asserted-by":"crossref","unstructured":"Giacomozzi, C, Guaraldi, F, Cambiaso, P, Niceta, M, Verrillo, E, Tartaglia, M, et al.. Anti-hypothalamus and anti-pituitary auto-antibodies in ROHHAD syndrome: additional evidence supporting an autoimmune etiopathogenesis. Horm Res Paediat 2019;92:124\u201332. https:\/\/doi.org\/10.1159\/000499163.","DOI":"10.1159\/000499163"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_005","doi-asserted-by":"crossref","unstructured":"Ib\u00e1\u00f1ez-Mic\u00f3, S, Marcos Oltra, A, de Murcia Lemauviel, S, Ruiz Pruneda, R, Mart\u00ednez Ferr\u00e1ndez, C, Domingo Jim\u00e9nez, R. Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): a case report and literature review. Neurologia 2017;32:616\u201322. https:\/\/doi.org\/10.1016\/j.nrl.2016.04.008.","DOI":"10.1016\/j.nrleng.2016.04.003"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_006","doi-asserted-by":"crossref","unstructured":"Lee, JM, Shin, J, Kim, S, Gee, HY, Lee, JS, Cha, DH, et al.. Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neuroendocrine tumors (ROHHADNET) syndrome: a systematic review. BioMed Res Int 2018;2018:1250721. https:\/\/doi.org\/10.1155\/2018\/1250721.","DOI":"10.1155\/2018\/1250721"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_007","doi-asserted-by":"crossref","unstructured":"Filippidou, M, Petropoulou, T, Botsa, E, Vasilakis, I, Smyrnaki, P, Orfanou, I, et al.. ROHHAD syndrome - a still unrecognized cause of childhood obesity: report of three cases. J Pediatr Endocrinol Metabol 2020;33:1341\u201348. https:\/\/doi.org\/10.1515\/jpem-2020-0111.","DOI":"10.1515\/jpem-2020-0111"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_008","doi-asserted-by":"crossref","unstructured":"Ido Paz-Priel, M, David, W, Cooke, MD, Chen, AR. Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome. J Pediatr 2010;158:337\u20139. https:\/\/doi.org\/10.1016\/j.jpeds.2010.07.006.","DOI":"10.1016\/j.jpeds.2010.07.006"},{"key":"2023033122070768636_j_jpem-2022-0085_ref_009","doi-asserted-by":"crossref","unstructured":"Smith, M. Rituximab (monoclonal anti-CD20 antibody): mechanisms of action and resistance. Oncogene 2003;22:7359\u201368. https:\/\/doi.org\/10.1038\/sj.onc.1206939.","DOI":"10.1038\/sj.onc.1206939"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0085\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0085\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T11:31:32Z","timestamp":1680348692000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0085\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,26]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,6,14]]},"published-print":{"date-parts":[[2022,8,26]]}},"alternative-id":["10.1515\/jpem-2022-0085"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0085","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,26]]}}}