This is a rare congenital condition presenting the severe form of functional intestinal obstruction in the newborn infants. This is a serious life-threatening condition requiring ongoing medical care and the monitoring. Microcolon is the small colon, megacystis means the enlarged bladder and the intestinal hypoperistalsis is the abnormally sluggish intestinal muscular contractions. The kidney complications of the affected individuals are also common. As MMISHS is considered to be fatal in the first year of the infant’s life, death can occur as the result of kidney failures, multiple organ failure or as the result of sepsis which is the infection of the entire body.
Causes
This syndrome develops as the result of a mutation in the gene identified as ACTG-2. The inheritance pattern is in an autosomal dominant manner meaning a single defective gene can cause this disorder.
Symptoms
The severity of the syndrome can vary among the affected cases. Most of the individuals have a bladder that is not able to empty on its own or as regularly as it should. The intestinal problems can include nutrient absorption, displaced intestines and the decreased intestinal motility. Individuals with this syndrome don’t always respond the same as normal children to cold or flu and can require ER visits and be admitted to the hospital for a few days. Hence, it is very important for these children to prevent exposure to common illness.
Diagnosis
The prenatal diagnosis of this condition is possible that presents the enlarged kidneys, enlarged fetal bladder, undescended testicles, increased amniotic fluid in the late pregnancy and the decreased fetal colon activity in the third trimester. The postnatal diagnosis is possible with the identification of the features associated with this syndrome such as failure to pass meconium, bile stained vomiting and the distended abdomen. The genetic testing can confirm the diagnosis by detecting the mutation responsible for the development of this condition.
Treatment
There is no cure for this syndrome and some of the affected individuals can have multi-organ transplant which can be life-saving. The bladder and kidney treatment include the use of catheterization which is a process involving the insertion of a tube into the bladder via the urethra to empty the bladder. This process can be done several times a day to prevent the stress on the bladder. The intestinal problems can be treated with surgery although the inability of the proper digestion of food is one of the complicated conditions associated with this syndrome. As the result, most of the patients have a feeding tube and ostomy that provides the essential nutrients. The central line can also deliver the additional nutrients required by the body in the form of total parenteral nutrition (TPN). The central line needs to be maintained completely clean to prevent the development of infection.
References
http://www.mmihs.org/wp-content/uploads/2016/09/General-Brochure.pdf
http://www.mmihs.org/wp-content/uploads/2016/09/Professional-Brochure.pdf
http://www.sempedsurg.org/article/S1055-8586(04)00082-4/abstract
