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Hirschsprung Disease



Hirschsprung Disease, also known as Congenital Aganglionic Megacolon, is a congenital disorder that affects approximately 1 in every 5,000 births in the United States.  It is four times more common among males than females.  It is caused by the absence of ganglionic cells in any portion of the intestines or bowel.  The ganglionic cells are responsible for the rhythmic contractions necessary for passage of food products.  Absence of these cells results in the inability of the bowels to push digested matter and can result in obstruction.  Symptoms are often present at birth and include abdominal distension and failure of the meconium to pass through.  Other symptoms also include repeated vomiting, chronic constipation and delayed growth due to malnourishment.  Enterocolitis, inflammation of the small intestines and colon, is a common complication and may become fatal if not promptly treated. 


Diagnosis of Hirschsprung Disease includes a physical examination that reveals a palpable distended abdomen and decreased tone of rectal muscles.  Further tests may include abdominal X-rays, biopsy and anal manometry.  Most cases of Hirschsprung disease are treated surgically through a temporary colostomy or a removal of the affected segment.  A majority of symptoms are relieved through surgery.  The outcome is often dependent on the extent of the region affected.  Antibiotics may also be prescribed.


Most cases of Hirschsprung Disease are due to sporadic mutations in the genes although people with familial history of Hirschsprung Disease are at an increased risk.  They are strongly recommended to undergo genetic counseling and analysis to determine the cause of Hirschsprung Disease and to find out if it is hereditary.  Since Hirschsprung Disease is four times more likely to occur among males than females, couples at risk of having an affected child can take advantage of a new genetic test called Preimplantation Genetic Diagnosis (PGD).  PGD tests for known genetic defects and can determine the gender of the embryo.  Through this mechanism, the chance of having an affected child can be significantly reduced.  After a thorough genetic evaluation, a genetic counselor can determine whether PGD will be beneficial.  PGD is also available for a variety of other genetic disorders and continues to be improved to include other hereditary diseases.



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Last modified: 06/09/04