About hirschsprung disease-mental retardation syndrome

What is hirschsprung disease-mental retardation syndrome?

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal) abnormalities, male genital abnormalities and short stature. Some affected individuals may not be recognized until childhood or adulthood, especially when Hirschsprung disease (HSCR) is not present. MWS is caused by an abnormality in the ZEB2 gene that is usually the result of a new genetic change (mutation) in the affected person.



What are the symptoms for hirschsprung disease-mental retardation syndrome?

Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth.

Other signs and symptoms in newborns may include:

  • Swollen belly
  • Vomiting, including Vomiting a green or brown substance
  • Constipation or gas, which might make a newborn fussy
  • Diarrhea
  • Delayed passage of meconium — a newborn's first bowel movement

In older children, signs and symptoms can include:

  • Swollen belly
  • Chronic constipation
  • Gas
  • Failure to thrive
  • Fatigue



What are the causes for hirschsprung disease-mental retardation syndrome?

It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.



What are the treatments for hirschsprung disease-mental retardation syndrome?

For most people, Hirschsprung's disease is treated with surgery to bypass or remove the part of the colon that's lacking nerve cells. There are two ways this can be done: a pull-through surgery or an ostomy surgery.

Pull-through surgery

In this procedure, the lining of the diseased part of the colon is stripped away. Then, the normal section is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods, operating through the anus.

Ostomy surgery

In children who are very ill, surgery might be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is connected to an opening the surgeon creates in the child's abdomen. Stool then leaves the body through the opening into a bag that attaches to the end of the intestine that protrudes through the hole in the abdomen (stoma). This allows time for the lower part of the colon to heal.

Once the colon has had time to heal, a second procedure is done to close the stoma and connect the healthy portion of the intestine to the rectum or anus.

Results of surgery

After surgery, most children are able to pass stool through the anus.

Possible complications that may improve with time include:

  • Diarrhea
  • Constipation
  • Leaking stool (fecal incontinence)
  • Delays in toilet training

Children also continue to be at risk of developing a bowel infection (enterocolitis) after surgery, especially in the first year. Call the doctor immediately if any of the signs and symptoms of enterocolitis occur, such as:

  • Bleeding from the rectum
  • Diarrhea
  • Fever
  • Swollen abdomen
  • Vomiting



What are the risk factors for hirschsprung disease-mental retardation syndrome?

Factors that may increase the risk of Hirschsprung's disease include:

  • Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological siblings could be at risk.
  • Being male. Hirschsprung's disease is more common in males.
  • Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.



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