Berdon's Syndrome
Berdon's Syndrome Definition
Berdon's Syndrome, also known as Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), is a disorder of newborn babies, most prevalent in females, characterized by constipation and urinary retention, microcolon, giant bladder (or megacystis), hydronephrosis, intestinal hypoperistalis, and dilated small bowel. It results from a dysfunction of the smooth muscle in the abdomen and digestive system. This disorder prevents the intestines, stomach, kidneys, and bladder from functioning correctly. The pathological findings consist of a large quantity of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown origin. Experts disagree whether inheritance is autosomal dominant or recessive. In 1976, Berdon and company first described the condition in five female infants, two of whom were sisters. All had marked bladder dilatation and some had hydronephrosis and the external appearance of a prune belly. The infants also had microcolon and sverely dilated small intestines.
Berdon's Syndrome Diagnosis
Berdon's Syndrome is difficult to diagnose before the baby's birth. Abnormal internal organs may be seen on fetal ultrasound, but it may not be clear that the child has Berdon's Syndrome, unless the child had a sibling with the disorder. Once the baby is born, physical examination and ultrasound can determine if it has been affected with the disorder.
Berdon's Syndrome Symptoms and Signs
The symptoms of Berdon's Syndrom result from the underlying smooth muscle disorder. The muscles of the internal organs are loose and flabby and do not develop properly. Some symptoms of Berdon's Syndrome are a giant bladder that is weak (megacystis), a too-small large intestine (microcolon), and intestinal hypoperistalsis, where the small intestine is too wide and its weak muscles don't let food pass through very well. Other symptoms are the abdominal muscles are flabby and lax, making the baby's belly look wrinkled, like a prune. The hypoperistalsis can lead to constipation and blockage of the intestines.
Berdon's Syndrome Treatment
Unfortunately, there is no cure for Berdon's Syndrome, and the outlook is bleak for infants born with it. Most of them die within their first year of life. Infants can be fed intravenously with special mixtures, but this type of therapy often causes liver failure for the patient. In the last decade, doctors have attempted to replace all of the defective internal organs in infants with the syndrome by transplantation. A 1999 article in the journal Transplantation reported on 3 girls with Berdon's who received multi-organ transplantations. The transplants failed in one child, who later on died from complications. One child died 17 months later due to pneumonia, but the third child was alive and well at the time of the article.