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

doi:10.1515/jpem-2022-0376

Article

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 and Dinesh Giri

Published/Copyright: January 25, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 4

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.

Keywords: autonomic; hypothalamic; hypoventilation; obesity; ROHHAD

Corresponding author: Prof. Julian P. Hamilton-Shield and Dr. Dinesh Giri, Paediatric Endocrinology and Diabetes Department, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Upper Maudlin Street, BS2 8BJ, Bristol, UK, Tel: 01179 230000, E-mail: j.p.h.shield@bristol.ac.uk, dinesh.giri@uhbw.nhs.uk

Acknowledgments

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. The views expressed by those authors are not necessarily those of the NIHR or the Department of Health and Social Care.

Research funding: None declared.
Author contributions: Dr Hawton interpreted clinical investigations, drafted the initial manuscript and reviewed and revised the manuscript. Dr Giri, Prof Hamilton-Shield, Dr Crowne, Dr Burren, Dr Langton-Hewer, Dr Hilliard contributed to patient care and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from the patients’ parents for publication of this case series.
Ethical approval: Not applicable.
Data availability statement: All data generated or analysed during this study are included in this article. Further enquiries can be directed to the corresponding author.

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Received: 2022-07-29

Accepted: 2023-01-03

Published Online: 2023-01-25

Published in Print: 2023-04-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2022-0376

Keywords for this article

autonomic; hypothalamic; hypoventilation; obesity; ROHHAD