ROHHAD syndrome

Abstract

ROHHAD is a clinical entity with a median age of 3 years at onset characterised by sudden onset of dramatic weight gain, dysautonomia, and pulmonary complications. These include alveolar hypoventilation, obstructive sleep apnoea, and decreased central responsiveness to carbon dioxide concentrations. There are also several endocrinopathies associated with this disorder including hypernatraemia, 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 tumours. Therefore, all patients with known ROHHAD syndrome should be carefully screened for the presence of these tumours.