ROHHAD syndrome

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 : 


Updated: August 2023