ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases
-
Maria Filippidou
,
Theoni Petropoulou
Abstract
Objectives
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome.
Case presentations
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.
Conclusions
The rarity of the syndrome, the variable symptoms’ 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.
Research funding: None declared.
Author contributions: MF drafted the manuscript; MF, TP, EB, IAV, PS, IE participated in the care of the patients, AK participated in the pulmonary evaluation of the patients. CKG managed all patients and supervised the preparation of the manuscript at all steps. All authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance to the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional ethical review board.
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Articles in the same Issue
- Frontmatter
- Research Articles
- Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
- Cascade screening and treatment of children with familial hypercholesterolemia in Turkey
- Risk of adrenal insufficiency following intra-articular or periarticular corticosteroid injections among children with chronic arthritis
- Vitamin D status is related to severity at onset of diabetes and worse glycemic control
- Reassessing vitamin D supplementation in preterm infants: a prospective study and review of the literature
- Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
- Liraglutide pharmacokinetics and exposure-response in pediatric patients with type 2 diabetes
- Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism
- Prevalence of autoantibodies in type 1 diabetes mellitus pediatrics in Mazandaran, North of Iran
- Clinical features of the diabetes eating problem survey–revised Turkish version in children and adolescent with type 1 diabetes
- Ambulatory blood pressure profile in office normotensive obese children: prevalence of masked hypertension and impact of parental hypertension
- Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review
- Short Communication
- Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature
- Case Reports
- ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases
- Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
- Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers
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