Very rare. Acronym for Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysfunction.
The possible genetic origin is not yet known. The clinical phenotype is similar to the Ondine syndrome with late-onset (see this term) but with no mutation of the PHOX2B gene.
There are multiple clinical characteristics, which include:
- onset between 2 and 4 years of age
- hyperphagia and rapidly increasing obesity
- endocrine disorders: hypernatremia with pseudo-diabetes insipidus, hypothyroidism, adrenal failure, hyperprolactinemia
- autonomic system dysfunction: thermal control disorders (hyper- or hypothermia), alteration of the pupillary light reflex, bradycardia
- decreased pain sensitivity
- alveolar hypoventilation, with or without obstructive sleep apnea, sometimes leading to respiratory and cardiac arrest
- behavioural disorders
- risk of neural crests cell-derived tumors: neuroblastoma, ganglioneuroma. This situation is known as a ROHHADNET syndrome
Apnea treatment: non-invasive ventilation, tracheotomy.
Anesthetic implications:
management of morbid obesity, check blood electrolytes and endocrine status, major alveolar hypoventilation. If possible avoid the use of long-acting general anesthetics and opioids. Locoregional anaesthesia techniques can be difficult to achieve given the morbid obesity.
References :
- Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
Pediatrics 2007 ; 120 : e179-188.
- Luccoli L, Ellena M, Esposito I, Bignamini E, Gregoretti C.
Noninvasive ventilation in a child with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD).
Minerva Anesthesiol 2012; 78: 1171-2.
- Chandrakantan A, Poulton TJ.
Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomis dysfunction (ROHHAD) syndrome in children.
Pediatr Anesth 2013 ; 23 : 28-32
- Abaci A, Catli G, Bayram E et al.
A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor : ROHHADNET syndrome.
Endocr Pract 2013; 19: e 12-6.
- Rossetti E, Bianchi R, Paglietti MG, Cutrera R, Picardo S.
Severe phenotype of rapid-onset obesity, hypoventilation, hypothalamic dysfunction and autonomic dysfunction syndrome (ROHHAD).
Minerva Anesthesiol 2014; 80(6):744-5
- Ballard HA, Leavitt OS, Chin AC, Kabre R et al.
Perioperative anesthetic management of children with congenital central hypoventilation and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation.
Pediatr Anesth2018; 28: 963-73.
- Puri S, Yaddanapudi S, Menon P.
Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision.
Anaesthesia Reports 2022 ; 10 : e12172
- Soni L, Girish K, Sirivella PK , Maitra S, Agarwal S, Chhabra A.
Anesthetic management of a child with ROHHAD syndrome for major abdominal surgery.
Pediatr Anesth 2023 ; 33 : 771-2.
Updated: August 2023