ArticleClinical diabetes and endocrinology2019
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time.
Article in Clinical diabetes and endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 24 citations in OpenAlex.
- ROHHAD syndrome: an interdisciplinary perspective.Frontiers in pediatrics · 2026Article
- Management of obesity in an individual with ROHHAD syndrome with semaglutide 2.4 mg/week: a case report.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2025Article
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Case report: Molecular characterisation of adipose-tissue derived cells from a patient with ROHHAD syndrome.Frontiers in pediatrics · 2023Article
- Rapid-Onset Obesity, Hypothalamic Dysregulation, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumour: Rare Syndrome with Myriad Anaesthesia Implications.Turkish journal of anaesthesiology and reanimation · 2022Article
- ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.Annals of neurology · 2022Article
- ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.Frontiers in pediatrics · 2022Article
- Case Report: COVID-19-Associated ROHHAD-Like Syndrome.Frontiers in pediatrics · 2022Article
- ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.International journal of general medicine · 2021Review
- Thoracic Ganglioneuroma Presenting with Paraneoplastic Cerebellitis and ROHHAD-NET Syndrome.Annals of Indian Academy of NeurologyArticle
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Authors and funding
11 authors at 3 institutions in 2 countries.
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Abstract
backgroundRapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare syndrome with unknown etiology. Metabolic abnormalities are not known to be part of the syndrome. We present one of the oldest cases reported in the literature, who developed severe metabolic abnormalities and hepatic disease suggesting that these features may be part of the syndrome. CASE PRESENTATION: A 27-year-old woman, diagnosed with ROHHAD syndrome at age 15, who previously developed diabetes insipidus, growth hormone deficiency, hyperprolactinemia, and hypothyroidism in her first decade of life. This was followed by insulin resistance, NAFLD, liver fibrosis, and splenomegaly before age 14 years. Her regimen included a short course of growth hormone, and cyclic estrogen and progesterone. Her metabolic deterioration continued despite treatment with metformin. Interestingly, she had a favorable response to liraglutide therapy despite having a centrally mediated cause for her obesity. At age 26, a 1.6 cm lesion was found incidentally in her liver. Liver biopsy showed hepatocellular carcinoma which was successfully treated with radiofrequency ablation.
conclusionMetabolic abnormalities, Insulin resistance and fatty liver disease are potentially part of the ROHHAD syndrome that may develop over time. GLP1 agonists were reasonably effective to treat insulin resistance and hyperphagia. Patients with ROHHAD may benefit from close follow up in regards to liver disease.
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