Megacystis microcolon intestinal hypoperistalsis syndrome

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

There is recognised strong female predilection.

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

Genetics

The disease carries an autosomal recessive inheritance 2-3 with the gene locus at 15q24 8 although some authors suggest a sporadic occurence in certain cases reference required.

Associations
Antenatal ultrasound

Direct sonographic findings can include:

Ancilliary 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 consided 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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Article Information

rID: 13418
System: Obstetrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Berdon syndrome
  • Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH)
  • MMIH
  • Berdon's syndrome
  • Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)
  • MMIHS
  • Megacystis microcolon syndrome
  • Megacystis-microcolon-intestinal-hypoperistalsis syndrome

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