Hirschsprung-3JUL

Hirschsprung's Disease (Megacolon)

Hirschsprung's Disease (Megacolon)

People with Hirschsprung's disease lack the nerve cells that enable intestinal muscles to move stool through the large intestine (colon). Stool becomes trapped in the colon, filling the colon and causing it to expand to larger than normal. Hirschsprung's disease is also called megacolon. It is a congenital disease, which means a person is born with it. The disease may also be hereditary, which means a parent can pass it to a child. Hirschsprung's disease affects mainly infants and children.

Although symptoms usually begin within a few days after birth, some people don't develop them until childhood or even adulthood. In infants, the primary symptom is not passing meconium, an infant's first bowel movement, within the first 24 to 48 hours of life. Other symptoms include constipation, abdominal swelling, and vomiting. Symptoms in older children include passing small watery stools, diarrhea, and a lack of appetite.

Physicians diagnose Hirschsprung's disease through rectal manometry, a lower gastrointestinal (GI) series, and rectal biopsy. Rectal manometry involves recording pressure changes within the colon and rectum. In a lower GI series, x-rays are used to measure the width of the colon and rectum. Rectal biopsy involves removing a piece of rectal tissue to learn whether the nerve cells that control intestinal muscle contractions are present.

Colostomy is the most effective treatment for Hirschsprung's disease. In a colostomy, the surgeon removes the affected part of the colon. The top half of the remaining colon is then connected to a surgically created hole, called a stoma, on the abdomen. Stool can leave the body through this hole while the lower part of the colon heals. Later, the surgeon will reconnect the colon inside the body and close the stoma. The patient will then be able to have normal bowel movements.

Information provided by theNational Institutes of HealthArticle Created: 1999-06-02Article Updated: 1999-06-02

Each year, Medical College of Wisconsin physicians care for more than 180,000 patients, representing nearly 500,000 patient visits. Medical College physicians practice at Children's Hospital of Wisconsin, Froedtert Memorial Lutheran Hospital, the Milwaukee VA Medical Center, and many other hospitals and clinics in Milwaukee and southeastern Wisconsin.

Home | About HealthLink| Medical College of Wisconsin| ClinicLink| Clinical TrialsContact Information| Site Map| Disclaimer| Privacy| Copyright Notice

2003 Medical College of Wisconsin

HIRSCHPRUNGS

Contributed by: justin siegal,Radiologist,Virginia Mason Medical Center,Washington,USA.

History: 2 day old boy with abdominal distension and failure to pass meconium

Images:[small]

HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=medium&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" medium

INCLUDEPICTURE "http://www.mypacs.net/wrm/icons/spacer.gif" \* MERGEFORMATINET

HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=large&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" large


HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=submitted&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" as-submitted


HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&mode=NOBANNER&bgcolor=BLACK&cx_image_only_mode=on&cx_repo=mpv3_repo&cx_from_folder=" images only

Fig. 1

Fig. 2 Images:[small]

HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=medium&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" medium


HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=large&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" large


HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&cx_prefsize=submitted&training_stage=&cx_repo=mpv3_repo&cx_from_folder=" as-submitted


HYPERLINK "http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=22148&mode=NOBANNER&bgcolor=BLACK&cx_image_only_mode=on&cx_repo=mpv3_repo&cx_from_folder=" images only

Findings: Contrast enema: Small colon, mid transverse colon through rectum. Transition in proximal transverse colon. Markedly dilated loop of proximal colon. Extravasation of contrast outline both sides of bowel wall and small amount of air over liver.

Diagnosis: Hirschprungs disease

Discussion: Incidence: 1:4500 live births / M:F 4:1 / associated with Downs Pathogenesis: absence of parasympathetic ganglia in myenteric plexus Location of aganglionosis: 70% distal sigmoid and rectum, 15% proximal to splenic flexure / 80% short segment disease, 15% long segment dz, total colonic aganglionosis 5% Presentation: 80% present in first month, often with failure to pass meconium in first 24 hours Complication: entercolitis (may present with explosive diarrhea, fever); cecal perforation (secondary to stasis, distension, ischemia); obstructive uropathy Radiographic findings: Enema: transition zone most often identified on initial lateral view of rectum (rectosigmoid index, normally rectum wider than sigmoid); may see irregular, spiculated contractions in aganglionic segment; may see marked retention of barium post-enema at 24 hours Dx: Rectal mucosal bx showing increased acetylcholinesterase activity or full thickness biopsy to evaluate for ganglions

Comments: Please log in to post a commentNo comments posted.

Additional Details:

Case Number: 22148Last Updated: 07-25-2004Anatomy: OtherPathology: OtherExam Date: 08-20-2002Access Level: Readable by all users

Case has been viewed 210 times.

The reader is fully responsible for confirming the accuracy of this content. Text and images may be copyrighted by the case author or institution.You can help keep MyPACS tidy: if you notice a case which is not useful (e.g. a test case) or inaccurate, please send email to [email protected]

Our Hirschprungs Baby

Kevin was born in 1993 in Welland, Ontario. My pregnancy was perfectly wonderful, but as soon as labour started things went down hill.Labour went a total of 36 hours ending with an emergency C-section. The doctor we had was, lets say, not the best. It was finally the nurse (that was on her second shift with us. We saw alot of nurses in over 30 hrs.) that told the doctor that something had to be done because this baby was in distress. My water had broke about 30 hours before delivery and that was not a good thing either. After Kevin was delivered everything was fine for about 24 hours, or so we thought. I never nursed him in that time so I suspect they knew something was wrong. I was a little bit out of touch.( Still feeling the effects of the surgery) Kevin never had his first poop and started spitting up yellow foamy stuff. The day after he was born they told us that something was wrong and that it might be meningitis. They called in the air ambulance to take him to a larger hospital 48 hours after he was born. That was the worst moment of my life to that point. The picture of him in the incubator is what I saw being wheeled away from me. The Dr. from McMaster Medical center was fantastic. He called me with every detail as they tested Kevin. Dave and his mom went to the next hospital that day. I was still in no shape to go in the car for a 45 minute drive. On the second day there they discovered that Kevin had HIRSCHPRUNGS disease. This is a bowel disease that can be inherited. Basically it is the lack of nerve ending in a section of the bowel by the rectum. Without these nerves, the bowel rectum won't open and close because there is no feeling. That is the long and short of it. At 5 days old Kevin had his first surgery. They cut out the bad section of bowel and pulled a segment of bowl of of his stomach and he had a colostomy bag. He then had another surgery at 6 months old and his colostomy was moved to his navel. At nine months he had his final surgery and everything was put back together. You have never seen two parents sooooo excited to see their child poop properly in all your life. We called everyone. Kevin has continue to struggle with bowl problems. Some incontinence, but that has much improved and I can actually seen the end of this tunnel. About 8 months ago we discovered that Kevin was Fructose Intolerant. This is very similar to lactose intolerance but with the natural sugars produced by fruit. It is much more rare that lactose intolerance as well. If Kevin has any of these sugars he gets terrible stomache aches. But he is learning what causes problems and what doesn't. Well that is it in a nut shell. If you have any questions feel free to ask me.

Documents

Hirschsprung-3JUL