(1)
Pediatric Surgery, AlSadik Hospital, Qatif, Saudi Arabia
14.1 Introduction
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns.
It is a familial disturbance of unknown etiology.
It was first described by Walter Berdon et al. in 1976.
They described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines (Fig. 14.1).
Fig. 14.1
A micturating cystourethrogram showing a markedly enlarged urinary bladder. Note also the dilated stomach. There was no evidence of vesicoureteral reflux
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is the most severe form of functional intestinal obstruction in the newborn.
The etiology of MMIHS is unknown.
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is found in females three or four times more than in males.
It is characterized by (Figs. 14.2, 14.3, 14.4, 14.5, and 14.6):
Figs. 14.2 and 14.3
Abdominal CT-scans showing a markedly dilated urinary bladder. Note also the associated bilateral hydronephrosis
Fig. 14.4
An intraoperative clinical photograph showing a markedly dilated urinary balder. Note the thick wall of the enlarged urinary bladder
Figs. 14.5 and 14.6
Lower contrast enema showing small unused microcolon
A dilated, giant non obstructed urinary bladder (megacystis)
Urinary retention
Microcolon
Hypoperistalsis or absent peristalsis of the gastrointestinal tract leading to functional intestinal obstruction.
Hydronephrosis
Dilated small bowel
The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine.
MMIHS carries a poor prognosis and most of the cases die within the early months of their lives, nevertheless there are some case reports recently of long-term survival.
These cases mostly die from malnutrition, sepsis, kidney failure, and liver failure depending on TPN and the complications of TPN.
In 2011 and in an extensive review of 227 children with the MMIHS, Gosemann and Puri reported a 19.7 % survival rate and the oldest reported survivor was 24 years old. The vast majority of the surviving patients had to be maintained by total or partial parenteral nutrition (TPN). The main causes of death were sepsis, malnutrition and multiple organ failure.
Prenatal diagnosis of MMIHS is possible by antenatal ultrasound and an antenatal ultrasound finding of an enlarged urinary bladder and intraabdominal mass in a female fetus should alert the treating physicians for MMIHS.
The usual presentation of newborns with MMIHS is abdominal distension. This is caused by a markedly distended, but non-obstructed urinary bladder. This usually fills the whole abdomen and may reach to the xiphisternum.
Treatment is supportive and involves an ileostomy to defunction the colon, with TPN.
Multiorgan transplantation is suggested as a valuable alternative for children with severe gastrointestinal dismotility.
14.2 Etiology
MMIHS is a rare congenital anomaly inherited as an autosomal recessive and predominantly affects females (4:1 ratio).
There are however reports of sporadic cases.
MMIHS is inherited as an autosomal recessive with the gene locus at 15q11.
The exact etiology of MMIHS is not known.
There are several theories to explain its pathogenesis but the most commonly accepted etiology is that MMIHS is a form of visceral myopathy.
This was supported by histological studies which showed smooth muscle myopathy as the most predominant intestinal manifestation. This affects both the circular and longitudinal layers of the small bowel muscularis propria.
Histological studies of the myenteric and submucosal plexuses of the bowel of MMIHS patients have found normal ganglion cells in the majority of the patients, decreased in some, hyperganglionosis and giant ganglia in others.Related posts:
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