{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T08:01:08Z","timestamp":1783065668376,"version":"3.54.6"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0111_abs_001_w2aab3b7c21b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0111_abs_002_w2aab3b7c21b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentations<\/jats:title>\n                  <jats:p>We describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0111_abs_003_w2aab3b7c21b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The rarity of the syndrome, the variable symptoms\u2019 presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0111","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T21:45:42Z","timestamp":1601502342000},"page":"1341-1348","source":"Crossref","is-referenced-by-count":10,"title":["ROHHAD syndrome\u00a0\u2013 A still unrecognized cause of childhood obesity: report of three cases"],"prefix":"10.1515","volume":"33","author":[{"given":"Maria","family":"Filippidou","sequence":"first","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theoni","family":"Petropoulou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evanthia","family":"Botsa","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis \u2013 Anargyros","family":"Vasilakis","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Smyrnaki","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Orfanou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasios","family":"Kaditis","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Kanaka-Gantenbein","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics , Medical School, National and Kapodistrian University of Athens, \u00abAghia Sophia\u00bb Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,9,30]]},"reference":[{"key":"2023040101055567928_j_jpem-2020-0111_ref_001_w2aab3b7c21b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Reppucci, D, Hamilton, J, Yeh, EA, Katz, S, Al-Saleh, S, Narang, I. ROHHAD syndrome and evolution of sleep disordered breathing. Orphanet J Rare Dis 2016;11:106. https:\/\/doi.org\/10.1186\/s13023-016-0484-1.","DOI":"10.1186\/s13023-016-0484-1"},{"key":"2023040101055567928_j_jpem-2020-0111_ref_002_w2aab3b7c21b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Ize-Ludlow, D, Gray, JA, Sperling, MA, Berry-Kravis, EM, Milunsky, JM, Farooqi, IS, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007;120:e179\u201388. https:\/\/doi.org\/10.1542\/peds.2006-3324.","DOI":"10.1542\/peds.2006-3324"},{"key":"2023040101055567928_j_jpem-2020-0111_ref_003_w2aab3b7c21b1b6b1ab2b1b3Aa","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. 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Metastatic neuroblastoma in a patient with ROHHAD: a new alert regarding the risk of aggressive malignancies in this rare condition. Pediatr Blood Canc 2019;66:e27906. https:\/\/doi.org\/10.1002\/pbc.27906.","DOI":"10.1002\/pbc.27906"},{"key":"2023040101055567928_j_jpem-2020-0111_ref_012_w2aab3b7c21b1b6b1ab2b1c12Aa","doi-asserted-by":"crossref","unstructured":"Barclay, SF, Rand, CM, Borch, LA, Nguyen, L, Gray, PA, Gibson, WT, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis 2015;10:103. https:\/\/doi.org\/10.1186\/s13023-015-0314-x.","DOI":"10.1186\/s13023-015-0314-x"},{"key":"2023040101055567928_j_jpem-2020-0111_ref_013_w2aab3b7c21b1b6b1ab2b1c13Aa","doi-asserted-by":"crossref","unstructured":"Patwari, PP, Rand, CM, Berry-Kravis, EM, Ize-Ludlow, D, Weese-Mayer, DE. Monozygotic twins discordant for ROHHAD phenotype. 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