Berdon syndrome

Berdon syndrome (also known as Megacystis–microcolon–intestinal hypoperistalsis syndrome, MMIH syndrome) is a rare genetically determined congenital disorder affecting multiple internal organs. The majority of affected individuals are females, with a female‑to‑male ratio of approximately 7:3. The oldest reported individual with this genetic disorder lived to the age of 24 years. Berdon syndrome is characterized by severe constipation, urinary retention, a markedly enlarged urinary bladder, dilated small intestine, and related abnormalities.

Causes

The underlying cause of the syndrome is a congenital genetic mutation. There are individuals in the population who carry the defective gene but are clinically unaffected; these individuals are referred to as carriers. If two such carriers—a man and a woman—have a child, there is a chance that each parent will pass on the mutated gene. In such a case, the child will develop Berdon syndrome. The pattern of inheritance is therefore autosomal recessive.

Treatment

The syndrome itself cannot be cured. There have been attempts to surgically remove the affected organs and replace them through transplantation with healthy organs; however, this approach naturally carries significant risks and potential complications.

• involvement of the urinary and gastrointestinal systems
• massively enlarged urinary bladder with a weak wall and the presence of various deformities of the urinary tract
• urinary retention (retention of urine in the kidneys and urinary bladder), hydronephrosis (enlarged kidney due to urine stagnation), and secondary renal damage
• reduced intestinal motility and constipation; the large intestine is extremely thin with impaired passage of stool, while the small intestine is abnormally dilated
• abdominal muscles are lax and weakened; as a result, the abdomen is wrinkled and resembles a dried plum (“prune belly”)