Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth.
A female infant with an antenatal diagnosis of intra-abdominal mass and bilateral hydronephrosis was born at a gestational age of 37 weeks through caesarean section to a grand multipar mother. After 24 hours delay of urination and meconium, she was referred to our department. Physical examination showed a distended abdomen and bladder and enlarged kidneys were palpated bilaterally. A 5 Fr urethral catheter was inserted and urine was drained. Negligible amount of meconium was seen by rectal tube insertion. Abdominal X-Ray showed a dilated stomach and minimal gas in the distal bowel segments. Abdominal ultrasound imaging revealed an enlarged urinary bladder and bilateral hydronephrosis with urethral dilatation.
The case was operated for intestinal obstruction 72 hours after birth. The findings included an unused microcolon with a plug from the ileocecal valve (Figure
Unused microcolon with several plugs.
The kidneys on both sides were hydronephrotic by palpation nearly twice of the normal size, and the bladder was observed to be gigantic with megasystic property (Figures
Empty megacystic bladder.
Distended megacystic bladder.
Gastrointestinal dysmotility can appear as different phenotypes of an enteric neuromuscular disease globally considered as chronic intestinal pseudo-obstruction, a disorder characterized by persistent failure of the intestine to propel its contents through an unobstructed lumen. Chronic intestinal pseudoobstruction may be primary, as in most pediatric cases, or secondary to various disorders (muscular dystrophy, connective tissue diseases, chronic infections such as Chagas disease, etc.) that usually occur in adults. The congenital conditions are associated with extraintestinal symptoms. Eighty-five percent of patients with myopathy and 10% with neuropathy have megacystis (dilated bladder with altered function) [
MMIHS, which is a rare reason of the neonatal intestinal obstruction, is a congenital disease with high mortality rates [
MMIHS is part of the spectrum of intestinal motility defects [
Our case was a female infant who was the 8th life birth of a 37-year-old mother. The parents were first degree relatives.
A consensus on the theory of the pathogenesis of the disease does not exist yet. Some of the theories are the lack of nicotinic acid receptor subunits, a defect in fiber synthesis, an inflammatory process of the gastrointestinal and urinary tract, generalized axonal dystrophy in central, and peripheral and autonomic nervous system [
Normal or excessive amounts of ganglion cells have been reported. Also, a case without ganglion cells has been reported, too [
The ganglion cells obtained from the narrow distal ileal segment were mostly immature but positive and in normal number according to pathological examination result. The immaturity in our case is supporting the theory about cell defect.
Although there has been publications about maternal drug usage for defining the etiology, there is an emphasize on the necessity of advanced experimental studies [
The antenatal diagnosis of the MMIHS is very difficult. However, publications about antenatal symptoms and additional urinary system anomalies were reported [
Our case was admitted to our clinic because of mass in the abdomen due to globe vesicale and bilateral Grade III-IV hydronephrosis in antenatal and postnatal USG and was hospitalized.
Surgical treatment choices are limited, and an effective surgical method has not been defined yet. Several intestinal diversions have failed to be successful [
These cases mostly die from malnutrition, sepsis, kidney failure, and liver failure depending on TPN and the complications of TPN. [
Prenatal diagnosis of MMIHS is possible by antenatal ultrasound. Studies of the contribution of MRI in the prenatal evaluation of digestive tract anomalies are still rare. MRI also appears useful for diagnosing microcolon associated with an enlarged bladder, suggesting MMIHS [
In our case, antenatal USG revealed intraabdominal mass and bilateral hydronephrosis at 32 weeks and resulted with a live birth at 34 weeks.
We suggest that an antenatal USG finding of an enlarged urinary bladder and intraabdominal mass in female fetus should alert the physicians for MMIHS. Clinical genetic counseling is indicated for further pregnancies.