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$Unique_ID{BRK03823}
$Pretitle{}
$Title{Hirschsprung's Disease}
$Subject{Hirschsprung's Disease Congenital Megacolon Megacolon Aganglionic
Acquired Hirschsprung's Disease Hirschsprung Disease with Type D Brachydactyly
Hirschsprung Disease with Ulnar Polydactyly Polysyndactyly of the Big Toes and
Ventricular Septal Defect Irritable Bowel Syndrome Crohn's Disease
Diverticulitis Down Syndrome Waardenburg Syndrome}
$Volume{}
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Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc.

727:
Hirschsprung's Disease

** IMPORTANT **
It is possible that the main title of the article (Hirschsprung's
Disease) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Congenital Megacolon
     Megacolon, Aganglionic
     Acquired, Hirschsprung's Disease

Disorder Subdivisions:

     Hirschsprung Disease with Type D Brachydactyly
     Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of the Big
     Toes and Ventricular Septal Defect

Information on the following diseases can be found in the Related
Disorders section of this report:

     Irritable Bowel Syndrome
     Crohn's Disease
     Diverticulitis
     Down Syndrome
     Waardenburg Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Hirschsprung's Disease is a rare disorder of the colon.  A person may be
born with it (congenital) or it may be acquired later in life.

In congenital Hirschsprung's Disease major symptoms may include
constipation, distention of the bowel and vomiting.  The disease may be
apparent at birth, may not be diagnosed until later in infancy, or may not
become apparent until later in childhood.

Acquired Hirschsprung's Disease develops later in life when the entire
rectum and colon appear unusually wide (dilated).  In this form of the
disorder it is usually associated with diseases such as Parkinson's disease,
scleroderma, intestinal pseudo-obstruction, Chagas' disease, amyloidosis, and
drug-induced or idiopathic (cause unknown) constipation.  (For more
information on these disorders, choose the following as your search terms in
the Rare Disease Database:  "parkinson," "scleroderma," "psuedo-obstruction,"
"chagas," and "amyloidosis.")

Symptoms

Hirschsprung's Disease is characterized by massive widening (dilation) of the
colon accompanied by constipation.  Absence of nerve fibers in the intestinal
muscles prevents the muscles from working to push feces through (peristalsis)
the colon and rectum.  This in turn causes an obstruction as the contents of
the intestines aren't moved along.

Severe constipation, abdominal distention, an inability to pass gas
(flatus), nausea and vomiting are the usual symptoms of the disease.  A
physical examination of the patient reveals no stool in the rectum, a tight
internal anal sphincter and dilation of the colon.  The symptoms do not
respond well to the usual medical therapies prescribed for constipation.

In infants, constipation may result in overgrowth of bacteria and
production of bacterial toxins which can then cause catastrophic diarrhea.
This may result in dehydration and death if left untreated.

Diagnosis of Hirschsprung's Disease is made by rectal biopsy of the mucus
lining.

Hirschsprung Disease with Type D Brachydactyly includes a dilated colon
with absence or poor development of the nails and bones of the thumbs and big
toes.  This form of the disorder is inherited as an X-linked trait.  (See the
Causes section of this report).


Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of the Big
Toes and Ventricular Septal Defect includes a dilated colon associated with
congenital heart malformation, broad big toes, and more than the normal
number of fingers.  This form of the disorder is inherited as an autosomal
recessive genetic trait.  (See the Causes section of this report).

Causes
There are various causes of Hirschsprung's Disease.  One theory is that it
may result from a defect in early fetal development as a result of maternal
high fever (hyperthermia).  In some cases congenital Hirschsprung's may be
inherited as an autosomal recessive genetic disorder, or as an X-linked
genetic condition.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for the same trait from each parent.  If one
receives one normal gene and one gene for the disease, the person will be a
carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

In X-linked dominant disorders the female with only one X chromosome
affected will develop a mild form of the disease.  However, the affected male
always has a more severe condition.

Acquired forms of Hirschsprung's Disease, or cases of the disease that
occur along with other disorders (e.g., Parkinson's, Scleroderma, etc.),
usually occur as a result of either intestinal nerve or muscular failure or
the use of drugs that can cause decreased or lack of motility in the
intestines.

 Affected Population
Hirschsprung's Disease affects males more often then females.  It occurs in
approximately one in five thousand live births.  It is usually apparent at
birth but may also develop in older children and adults.  Hirschsprung's
Disease should be considered in people with a history of severe
constipation.

Related Disorders

Symptoms of the following disorders can be similar to those of Hirschsprung's
Disease.  Comparisons may be useful for a differential diagnosis:

Irritable Bowel Disease, commonly called Spastic Colon or Mucous
Colitis, is a motility disorder which involves both the small intestine and
the large bowel.  It is characterized by varying degrees of abdominal pain,
constipation and diarrhea.  Stress makes symptoms worse in affected
individuals.  Irritable Bowel Syndrome is a very common disorder.  About
fifty percent of all gastrointestinal problems are represented by this
syndrome.  (For more information on this disorder, choose "Irritable Bowel"
as your search term in the Rare Disease Database).

Crohn's Disease, also known as ileitis, regional enteritis, or
granulomatous colitis, is a form of inflammatory bowel disease characterized
by severe, granulomatous, chronic inflammation of the wall of the
gastrointestinal tract.  In most cases, the ileum is affected.  (For more
information on this disorder, choose "Crohn" as your search term in the Rare
Disease Database).

Diverticulitis is a common digestive disorder characterized by
inflammation of one or more of the sacs (diverticula) that can form due to
protrusion of the inner lining of the colon through its wall.  It results in
pain near the groin in the lower part of the abdomen.  Other symptoms may
include pain when urinating, constipation, diarrhea or other changes in bowel
movements, fever or rectal bleeding.  (For more information on this disorder,
choose "Diverticulitis" as your search term in the Rare Disease Database).

The following disorders can be associated with Hirschsprung's Disease:

Down Syndrome is the most common and readily identifiable genetic
condition associated with mental retardation.  It is caused by a chromosomal
abnormality.  Many other medical conditions can be associated with Down's
such as:  congenital heart disease, leukemia, respiratory problems, eye and
ear problems and Hirschsprung's Disease.  (For more information on this
disorder, choose "Down" as your search term in the Rare Disease Database).

Waardenburg Syndrome is a hereditary disorder characterized by facial
abnormalities.  The inner folds of the eyelids or the tear duct may be
displaced, congenital nerve deafness may occur, and often there is abnormal
pigmentation of the iris of the eye, the skin and the hair.  This disorder is
sometimes accompanied by Hirschsprung's Disease in both the short and long
segments of the large bowel.  (For more information on this disorder, choose
"Waardenburg" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of both the congenital and acquired forms of Hirschsprung's Disease
usually consists of surgery to relieve the obstruction.  A temporary bowel
opening of the colon in the abdominal wall, (colostomy), is usually
performed.  The second operation consists of removing the diseased parts of
the colon and rectum and connecting the normal bowel to the anus.

If the form of Hirschsprung's Disease is inherited, genetic counseling
may be of benefit for patients and their families.  In adults who acquire
Hirschsprung's as a side effect of medications, other pharmaceutical options
should be considered if therapies are available that may reduce or eliminate
constipation.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Dr. Arvinda Chakekavarti, Human Genetics Department, University of
Pittsburgh, 130 Desoto St., Pittsburgh, PA, 15216, [phone] , is
conducting a study on the families of Hirschsprung disease patients.  To
participate in this study, patients from families with more than one living
affected member or those with multiple abnormalities and Hirschsprung's
disease, excluding Down Syndrome patients, are eligible for the genetic
study.  Physicians may contact Dr. Chakekavarti at the above address.

This disease entry is based upon medical information available through
April 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Hirschsprung's Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     American Hirschsprung Disease Association
     221/2 Spruce Street
     Brattleboro, VT 05301
     [phone]

     NIH/National Digestive Diseases Information Clearinghouse
     Box NDDIC
     Bethesda, MD  20892
     [phone]

     Pull-Through Network
     1126 Grant St.
     Wheaton, IL  60187
     [phone]
     or
     [phone]

     Support Group for Parents of Ostomy Children (SPOC)
     Div. of United Ostomy Association
     9375 E. Heany
     Santee, CA  92071
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 985-1048-1231-1313.

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987.  Pp.  7-125-126-171.

MANAGEMENT OF HIRSCHSPRUNG'S DISEASE IN ADOLESCENTS.  R.R. Ricketts, et
al.; Am Surg (April, 1989, issue 55 (4)).  Pp. 219-25.

HIRSCHSPRUNG'S DISEASE.  IDENTIFICATION OF RISK FACTORS FOR
ENTEROCOLITIS.  D.H. Teitelbaum, et al.;  Ann Sug (March, 1988, issue 207
(3)).  Pp. 240-244.

ADULT HIRSCHSPRUNG'S DISEASE.  AN EXPERIENCE WITH THE DUHAMEL-MARTIN
PROCEDURE WITH SPECIAL REFERENCE TO OBSTRUCTED PATIENTS.  N.B. Natsikas, et
al.; Dis Colon Rectum (March, 1987, issue 30 (3)).  Pp. 204-206.

SEGMENTAL INTESTINAL MUSCULAR THINNING; A POSSIBLE CAUSE OF INTESTINAL
OBSTRUCTION IN THE NEWBORN.  J.F. Johnson, et al.; Radiology (December, 1987,
issue 165 (3)).  Pp. 659-660.