Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update

@article{Patwari2014RapidonsetOW,
  title={Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update},
  author={Pallavi P. Patwari and Lisa F. Wolfe},
  journal={Current Opinion in Pediatrics},
  year={2014},
  volume={26},
  pages={487–492}
}
Purpose of review The focus of this review is to compare and contrast two orphan disorders of late-onset hypoventilation. Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and congenital central hypoventilation syndrome (CCHS) are distinct in presentation, pathophysiology, and etiology. Recent findings While limited new information is available, appreciation and understanding of rare disorders can be attained through case… 
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Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)
TLDR
A multisystem presentation including autonomic dysfunction in a child with rapid weight gain should raise the suspicion for ROHHAD syndrome.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
TLDR
A 13-year-old girl with ROHHAD syndrome and celiac disease is presented, which may suggest further evidence for immune-mediated etiology in the pathogenesis of ROHhAD syndrome.
ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome—What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review
TLDR
This work provides a comprehensive description of the etiopathogenetic theories of the disease, clinical presentation, diagnostic workup and treatment possibilities of the ROHHAD syndrome.
Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report
TLDR
This study is intended to inform clinicians about psychiatric symptoms of a girl with ROHHAD syndrome and alveolar hypoventilation is essential for the diagnosis.
Rapid‐onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma
To the Editor: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare, devastating disease.1 Approximately 40% of ROHHAD patients…
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review
TLDR
A systematic review of the phenotype of ROHHAD/NET aiming to help early recognition and reducing morbidity found rare variants in PIK3R3, SPTBN5, and PCF11 in one patient and SRMS, ZNF83, and KMT2B in another patient, respectively.
Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report
TLDR
A 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures is presented.
Sleep disorders and the hypothalamus.
ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases
TLDR
A questionnaire is proposed to help physicians identify patients with ROHHAD-syndrome, a rare, potentially fatal, pediatric syndrome with rapid onset of obesity that was underestimated, and the patients were misdiagnosed with other more common obesity syndromes.
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References

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TLDR
The difficulty of achieving the diagnosis of ROHHAD syndrome and its overlap with other well-established disease entities are highlighted and the mortality and morbidity resulting from the high incidence of cardiorespiratory arrest may be prevented by early ventilatory support.
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)
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TLDR
Various hypothalamic-pituitary endocrine dysfunctions are associated with ROHHADNET, carrying a risk of misdiagnosis until other elements of the syndrome make it more easily recognizable.
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TLDR
Positive PHOX2B sequencing results demonstrate that this entity is distinct from congenital central hypoventilation syndrome, and provides a comprehensive description of the clinical spectrum of rapid-onset obesity with hypothalamic dysfunction, hypventilation, and autonomic dysregulation.
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TLDR
This finding suggests that ROHHADS could share similar pathogenetic mechanisms with other immune-mediated central nervous system disorders, and even more important, it might pave the way to a therapeutic chance for these patients by means of immunotherapy.
Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation: Analysis of Hypothalamic and Autonomic Candidate Genes
TLDR
Evidence is provided that variation of the HTR1A, OTP, and PACAP genes are not responsible for ROHHAD, and this results represent a further step in the investigation of the genetic determinants of RohHAD.
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TLDR
The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder and the outcome remains poor for this group of patients.
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TLDR
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TLDR
A 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy is presented, including excessive daytime sleepiness with daytime naps, visual hallucinations, and partial catapLexy reflected in intermittent loss of facial muscle tone.
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TLDR
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