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OrphanAnesthesia
A. Chandrakantan

ROHHAD syndrome

ROHHAD syndrome

Schlüsselwörter ROHHAD; Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction
Keywords ROHHAD; Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction
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Summary

ROHHAD is a clinical entity with a median age of 3 years at onset characterized by sudden onset of dramatic weight gain, dysautonomia, and pulmonary complications. These include alveolar hypoventilation, obstructive sleep apnea, and decreased central responsiveness to carbon dioxide concentrations. There are also several endocrinopathies associated with this disorder including hypernatremia, hyperprolactinemia, hypothyroidism, and diabetes insipidus.  Additional features of the disease include behavioural and mood disorders, as well as seizures and learning impairment. There is an associated entity known as ROHHADNET with a predisposition towards the development of neuroectodermal tumors. Therefore, all patients with known ROHHAD syndrome should be carefully screened for the presence of these tumors.

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