Case presentation on ROHHAD syndrome

Abstract

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare, potentially life-threatening disorder of respiratory control and autonomic nervous system with endocrine system abnormalities. Aetiology is unknown, but some hypotheses suggest a genetic predisposition or an autoimmune reaction for the occurrence of the disorder. Patients with ROHHAD have impairment of respiratory centre in the brain stem which may cause respiratory depression. Children may experience the following symptoms such as rapid-onset obesity, hyperphagia and endocrine abnormalities. Along with these symptoms, children may experience central alveolar hypoventilation, intestinal abnormalities, body temperature irregularities, difficulty with mobility and eye abnormalities. Children should undergo many investigations to rule out the ROHHAD syndrome such as X-ray, magnetic resonance imaging, electroencephalography and gene analysis. There is no specific treatment for ROHHAD syndrome. Management of a child with ROHHAD syndrome is a multidisciplinary team approach based on the child's symptoms such as diet, exercise, hormone replacement, behavioural therapy, support with artificial ventilation and medication. Nurses have a vital role in supporting the children with ROHHAD syndrome and their families.