Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome, Berdon syndrome), is an autosomal recessive genetic disorder affecting newborns. It is more prevalent in females, and is characterized by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalis, hydronephrosis, and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown aetiology.
- Dilated bladder
- Dilated small bowel
- Reduced intestinal peristaltic action
- Absent intestinal peristaltic action
- Weak bladder
- Incomplete intestinal rotation
- Lax abdominal muscles
- Small large intestine
Almost any type of obstructive uropathy can result in hydronephrosis. The most common causes are benign prostatic hyperplasia, urethral strictures, and calculi; less common causes include strictures or stenosis of the ureter or bladder outlet, congenital abnormalities, abdominal tumors, blood clots, and neurogenic bladder. If obstruction is in the urethra or bladder, hydronephrosis is usually bilateral; if obstruction is in a ureter, it’s usually unilateral. Obstructions distal to the bladder cause the bladder to dilate and act as a buffer zone, delaying hydronephrosis. Total obstruction of urine flow with dilation of the collecting system ultimately causes complete cortical atrophy and cessation of glomerular filtration. Hydronephrosis occurs in 1 out of every 100 people.
Home medical testing related to Megacystis microcolon intestinal hypoperistalsis syndrome:
Colon & Rectal Cancer: Home Testing, Home Colorectal Cancer Tests, and Home Fecal Occult Bleeding Tests.
The goals of treatment are to preserve renal function and prevent infection through surgical removal of the obstruction, such as dilation for stricture of the urethra or prostatectomy for benign prostatic hyperplasia. If renal function has already been affected, therapy may include a diet low in protein, sodium, and potassium. This diet is designed to stop the progression of renal failure before surgery. Inoperable obstructions may necessitate decompression and drainage of the kidney using a nephrostomy tube placed temporarily or permanently in the renal pelvis or placement of a ureteral stent to allow the ureter to drain. Concurrent infection requires appropriate antibiotic therapy.