megacystis microcolon intenstinal hypoperistalsis syndrome

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

Epidemiology

There is recognized strong female predilection.

Pathology

The disorder is thought to arise from defects primarily affecting the gastrointestinal and renal tracts . 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.

Genetics

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

Associations

polyhydramnios: can be present in ~25% of cases
omphalocoele
intestinal malrotation

Radiographic features

Antenatal ultrasound

Direct sonographic findings can include:

fetal megacystis
fetal megaureter
fetal renal pelvic dilatation
dilatated segments of bowel (including stomach): fetal bowel dilatation

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.

Treatment and prognosis

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