Megacystis microcolon intestinal hypoperistalsis syndrome

Last revised by Joshua Yap on 5 Oct 2023

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.

There is a recognized strong female predilection.

The disorder is thought to arise from defects primarily affecting the gastrointestinal and renal tracts 11. It is suggested that intestinal smooth muscle myopathy is responsible for the hypofunctioning intestine. Reduced actin level, degeneration of vacuoles and reduction in cytoskeleton protein have also been described.

The disease carries an autosomal recessive inheritance 2,3 with the gene locus at 15q24 8 although some authors suggest a sporadic occurrence in certain cases ref.

On an upper GI study, features can include:

On a contrast enema, a microcolon is initially demonstrated. However, this is typically transient and the bowel loops may later be normal or dilated 15.

Direct sonographic findings can include:

Ancillary sonographic features include:

  • presence of polyhydramnios 

  • presence of normal amniotic volumes in the context of the above renal tract findings

In the context of obstructive-like renal findings, the presence of normal to elevated amniotic fluid volumes may suggest the diagnosis. 

The overall prognosis is considered to be poor and treatment has been shown to be generally ineffective 6. It is usually lethal within the first year of life 3.

First described by W E Berdon in 1976 4.

For antenatal hydronephrosis with hydroureter consider:

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