Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome - neuro-endocrine tumours (ROHHAD-NET): case series and learning points

Katherine Hawton, Tom Hilliard, Simon C Langton-Hewer, Christine Burren, Elizabeth C Crowne, Julian P Hamilton-Shield, Dinesh Giri

Research output: Contribution to journalArticle (Academic Journal)peer-review

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.

Original languageEnglish
Pages (from-to)418-423
Number of pages6
JournalJournal of Pediatric Endocrinology & Metabolism
Volume36
Issue number4
DOIs
Publication statusPublished - 25 Apr 2023

Bibliographical note

Funding Information:
Research undertaken by JHS is supported by the NIHR Biomedical Research Centre at University Hospitals Bristol and Weston NHS Foundation Trust and the University of Bristol.

Publisher Copyright:
© 2023 Walter de Gruyter GmbH, Berlin/Boston.

Keywords

  • Humans
  • Child, Preschool
  • Child
  • Hypoventilation/diagnosis
  • Hyperprolactinemia
  • Obesity/complications
  • Hypothalamic Diseases/complications
  • Syndrome
  • Autonomic Nervous System Diseases/complications
  • Neoplasms

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