Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome – neuro-endocrine tumours (ROHHAD-NET): case series and learning points
Author:
Hawton Katherine12ORCID, Hilliard Tom3, Langton-Hewer Simon C.43, Burren Christine14, Crowne Elizabeth C.1, Hamilton-Shield Julian P.142, Giri Dinesh14
Affiliation:
1. Paediatric Endocrinology and Diabetes Department , Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust , Bristol , UK 2. NIHR Biomedical Research Centre (Nutrition Theme), University of Bristol , Bristol , UK 3. Paediatric Respiratory Department , Bristol Royal Hospital for Children , University Hospitals Bristol and Weston NHS Foundation Trust , Bristol , UK 4. University of Bristol , Bristol , UK
Abstract
Abstract
Objectives
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with heterogeneous presentations but some consistent clinical features, including hyperprolactinaemia at diagnosis. We highlight when the diagnosis of ROHHAD should be considered at an early stage.
Case presentation
All three patients presented between 4 and 6 years old with rapid-onset obesity. They all have central hypoventilation requiring nocturnal BiPAP, varying degrees of hypothalamic dysfunction with hyperprolactinaemia being a consistent feature, and autonomic dysfunction. One patient has a neuro-endocrine tumour (NET) and two have glucose dysregulation.
Conclusions
High prolactin was a consistent early feature. Central hypoventilation and NET may present later and therefore regular sleep studies and screening for NETs are required. A high suspicion of ROHHAD is warranted in patients with rapid, early-onset obesity and hyperprolactinaemia without structural pituitary abnormality.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference13 articles.
1. 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. 2. Harvengt, J, Gernay, C, Mastouri, M, Farhat, N, Lebrethon, MC, Seghaye, MC, et al.. ROHHAD(NET) syndrome: systematic review of the clinical timeline and recommendations for diagnosis and prognosis. J Clin Endocrinol Metab 2020;105. https://doi.org/10.1210/clinem/dgaa247. 3. Lazea, C, Sur, L, Florea, M. ROHHAD (Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome-what every pediatrician should know about the etiopathogenesis, diagnosis and treatment: a review. Int J Gen Med 2021;14:319–26. https://doi.org/10.2147/ijgm.s293377. 4. 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:e179–88. https://doi.org/10.1542/peds.2006-3324. 5. Bougnères, P, Pantalone, L, Linglart, A, Rothenbühler, A, Le Stunff, C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocrinol Metab 2008;93:3971–80. https://doi.org/10.1210/jc.2008-0238.
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