[MIM 611 376]

Very rare: described in a Turkish family where inbreeding is important. Autosomal recessive  transmission of a mutation of the RAD21 gene (8q23-q24). It is a form of congenital visceral myopathy (see this term) resulting in a moderate form of the chronic intestinal pseudo-obstruction syndrome (see this term).

Association of:

-        gastric hypomotility and delayed gastric emptying

-        Barrett's esophagus with esophageal hypoperistaltism

-        megaduodenum

-        cardiac abnormalities: VSD, supra-valvular pulmonary stenosis, tricuspid or pulmonary insufficiency

-        sometimes: glaucoma, epilepsy, ocular ptosis and strabismus

Anesthetic implications:

echocardiography. Risk of aspiration: "full esophagus" (cfr achalasia) in case of esophageal involvement and delayed gastric emptying (gastric ultrasound before induction).

References : 

-        Burt N, Williams AR.
A pseudosyndrome, a real risk : aspiration on induction in a child with chronic idiopathic pseudoobstruction.
Am J Anesthesiol 1999; 26: 223-5.

Updated: August 2020