[MIM 249 210]

(Bendon syndrome)

Rare. Often considered as a form of congenital visceral myopathy or chronic intestinal pseudoobstruction (CHEP) (see these topics). Autosomal recessive transmission or sporadic cases. Probable mutation of the CHRNA3 or CHRNB4 genes, on chromosome 15 coding for the subunits α3 and/or β4 of the neuronal nicotinic acetylcholine receptor. Sporadic cases or autosomal dominant transmission of a mutation of the ACTG2 gene (gamma unit of the actin in the smooth muscles (2p13.1))[MIM 102 545]. Other, rarer cases are due to autosomal recessive transmission of a mutation in the LMOD1 gene (1q32.1), MYH11 (smooth muscle myosin (16p13.11))[MIM 160 745], MYL9 (20q11.23) or MYLK (myosin light chain kinase (3q21.1)) [MIM 249 210].

Female prevalence: 2.4/1.

At birth: important abdominal distention due to the presence of a large bladder and hydronephrosis;presence of a microcolon (sometimes with malrotation) with upstream dilation of the small bowel.

An exploratory laparotomy is often carried out following a preoperative diagnosis of neonatal occlusion.  Absent or very poor peristalstism. Esophageal peristaltism is also absent with a normal esophageal sphincter. It leads to dysphagia and progressive esophageal dilation

At histological examination, the nervous myenteric plexus is normal.

Cyclized long-term parenteral feeding. A discharge gastrostomy (flow > 50 ml/kg/d) is often set up to avoid gastric distension,  acidental aspiration and to allow some oral feeding.

Only curative treatment: intestinal or multi-organ transplantation.

Anesthetic implications:

delayed gastric emptying and sometimes esophageal achalasia (see this term): risk of aspiration; sequelae of long-term parenteral nutrition: liver disease, difficult central and peripheral venous access, thrombosis of central veins

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.

-        Kholer M, Pease PW, Upadhyay V. 
Megacystis-microcolon-intestinal hypoperistaltis syndrome in siblings: case report and review of the literature. 
Eur J Pediatr Surg 2004; 14: 362-7. 

-        Kocoshis SA, Goldschmidt ML, Nathan JD, El-Chammas KI et al.
Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistaltis syndrome (MMIHS).
J Pediatr Surg 2019; 54: 1303-7.

-        Prathapan KM, _Dale E. King, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G et al.
Microcolon Intestinal Hypoperistalsis  syndrome: a case series with long-term follow-up and prolonged survival.
JPGN 2021;72: e81–5.

Updated: April 2021