Mungan syndrome
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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