What is Berdon Syndrome or MMIHS?
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a severe autosomal recessive disease with a life expectancy of less than one year. It is commonly detected before birth and manifests rapidly in the immediate neonatal period, characterized by a distended bladder and decreased or absent peristalsis in the gastrointestinal tract. Intestinal obstruction, which is common in these patients, prevents enteral feeding and leads to abdominal distension and persistent bilious vomiting. This syndrome has a very low incidence; the first case was described by Berdon in 1976, and since then, only about a hundred cases have been reported. The prognosis for this disease is poor, and although there are some cases of prolonged survival, the majority of affected individuals do not survive beyond the first year of life, usually passing away due to postoperative complications, secondary to parenteral nutrition, sepsis, and renal failure. Nutritional support, particularly through prolonged parenteral nutrition over several months, is a key component of the therapeutic strategy, significantly impacting the quality of life for both the patient and the family.
Reference: https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-16112008000700015
Megacystis: Abnormal and pathological dilation of the urinary bladder, usually caused by obstruction of urine flow, neuromuscular disorders, or congenital malformations, which can lead to bladder dysfunction and recurrent infections.
Clinical Presentation
- Recurrent urinary tract infections (due to urinary stasis).
- Vesicoureteral reflux (progressive kidney damage).
- Chronic kidney failure in severe cases.
- Voiding dysfunction (inability to completely empty the bladder).
Microcolon: It is a congenital or acquired malformation characterized by an abnormally narrow and contracted colon, which hinders or prevents the passage of stool, causing intestinal obstruction.
Clinical Presentation
In newborns:
- Bilious vomiting.
- Abdominal distension
- Absence of bowel movements (failure to pass meconium within the first 48 hours).
In adults (rare cases):
- Severe chronic constipation.
- Abdominal pain and intestinal obstruction.
Intestinal hypoperistalsis: It is the decrease or absence of the normal peristaltic movements of the intestine, leading to a functional obstruction (pseudo-obstruction) without a mechanical cause.
Clinical Presentation
Acute:
- Painful abdominal distension.
- Vomiting (sometimes feculent).
- Absence of bowel movements and flatus.
Chronic:
- Refractory constipation.
- Malnutrition due to malabsorption.
- Recurrent episodes of pseudo-obstruction.
Various studies have documented clinical cases illustrating the variability in the presentation and progression of the syndrome. For example, one study described four cases with a prenatal diagnosis of megacystis, where findings such as bilateral hydronephrosis, microcolon, and intestinal malrotation were observed. These patients required interventions including parenteral nutrition and bladder catheterization, and experienced complications such as sepsis and renal dysfunction.
Another retrospective study analyzed the clinical characteristics and management of patients with MMIHS, highlighting the importance of an individualized approach and the need to consider intestinal transplantation in selected cases. .
In summary, Berdon syndrome is a rare congenital disease associated with high morbidity and mortality. However, advances in prenatal diagnosis, nutritional management, and surgical options have improved the prognosis for some patients.
