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Hirschsprung Hirschsprung DiseaseDisease

Alquds Alquds universityuniversity

Hirschprung’s DiseaseHirschprung’s Disease

More than 50 years old since the More than 50 years old since the discovery of the cause and the discovery of the cause and the treatment for Hirschprung disease. treatment for Hirschprung disease.

Incidence : 1 in 5000 live birthIncidence : 1 in 5000 live birth80 % of patients are males80 % of patients are males

Hirschsprung Disease Hirschsprung Disease CausesCauses

Association with inheritance in Association with inheritance in chromosome 10 in some patients.chromosome 10 in some patients.

Autosomal RecessiveAutosomal RecessiveAutosomal dominant in totally Autosomal dominant in totally

agangloinic bowel.agangloinic bowel.Common in Down syndromeCommon in Down syndrome

Hirschsprung Disease Hirschsprung Disease

Aganglionosis is restricted to the rectum and sigmoid colon in 75% of patients .

extends more proximally in 15-20% . and affects the entire colon and a

variable length of ileum in 8%. Rarely, ganglion cells are absent from

most of the gastrointestinal tract.

Why Hirschsprung Disease Why Hirschsprung Disease cause constipationcause constipation

This absence of normal parasympathatic innervation prevents gut peristalsis, leading to functional constipation.

The proximal colon hypertrophied by trying to overcome functional obstruction.

Transitional zone exists between normal and abnormal aganglionic intestine.

Hirschsprung Disease Hirschsprung Disease

This results in failure of the internal sphincter to relax with rectal distention.

Acetylcholine concentrations in aganglionic segments are threefold lower than in ganglionic segments.

Clinical Manifestations / Clinical Manifestations / diagnosisdiagnosis

Only 15% are diagnosed in the first month of life, but two thirds are in the first 3 months. Cases beyond 5 years of age usually have ultra- short segment disease.

Clinical diagnosisClinical diagnosis

Symptoms within the first week of life include failure to pass meconium within 48 hours,, reluctance to feed ,bilious vomiting,

abdominal distention irritability or frowning appearance. Constipation. sometimes Small watery stool Anemia. Delayed Growth.Delayed Growth. Fever due to infection (enterocolitis)Fever due to infection (enterocolitis)

Clinical diagnosisClinical diagnosis

Explosive liquid stools, fever, and severe prostration are indicative of enterocolitis.

Enterocolitis is rare (10%) in the first month but rises to 33% in the second and third months.

Recall that diarrhea may be a late sign.

DiagnosisDiagnosis

Rectal exam when the rectal vault is found devoid of stool and the anal canal feels narrow with increased tone.

Abdominal x-ray. Barium enema. Manometry. a test that measures the

movement and strength of the rectal and anal sphincter muscles.

Biopsy.

Abdominal X-rayAbdominal X-ray multiple dilated loops of bowel and a low bowel obstruction.multiple dilated loops of bowel and a low bowel obstruction.

DiagnosisDiagnosis

Barium enema -Barium enema - A contrast agent such A contrast agent such as barium) is given into the rectum in as barium) is given into the rectum in order to coat the inside of organs so order to coat the inside of organs so that they will show up on an X-ray.that they will show up on an X-ray.

( ( narrow segment and dilated proximal portion). Late films will show retention of barium at 24- 48 hours.

evidenced on a lateral film from the study.evidenced on a lateral film from the study.

Anorectal –manometryAnorectal –manometry

This determines whether normal This determines whether normal reflexes involving the rectum and the reflexes involving the rectum and the anus are present. Used only in older anus are present. Used only in older children, the test can be performed children, the test can be performed at the bedside.at the bedside.

A small balloon is inflated inside the A small balloon is inflated inside the rectum. rectum.

Rectal biopsy

is the most reliable diagnostic measure. Absence of ganglion cells in an infant is not conclusive because they may be small and monopolar.

The acetylcholinesterase stained section illustrates the increase in The acetylcholinesterase stained section illustrates the increase in positively (darkly) staining fibers within the lamina propria and positively (darkly) staining fibers within the lamina propria and

muscularis propria which, in the absence of ganglion cells, is diagnostic of muscularis propria which, in the absence of ganglion cells, is diagnostic of Hirschsprung disease. Hirschsprung disease.

Complicatons Complicatons of Hirschsprung`s disease

include intestinal perforation (particularly at the

appendix) Enterocolitis. water intoxication, results from the use of

tap water enemas.. there may be hypertonic dehydration from

saline enemas malnutrition, failure to thrive, and

anemia.

Treatment Treatment Surgical Surgical

(Pull-through Surgery)(Pull-through Surgery)

It involves taking out the diseased part of It involves taking out the diseased part of the intestine that doesn't work and the intestine that doesn't work and connecting the healthy part that's left to the connecting the healthy part that's left to the anus. After surgery, the child will recover anus. After surgery, the child will recover well and his intestines will work normally.well and his intestines will work normally.

Often, the surgery can be done right after Often, the surgery can be done right after the diagnosis. the diagnosis.

Colostomy and IleostomyColostomy and Ileostomy

However, children who have been very sick may first need However, children who have been very sick may first need ostomy toostomy to help the child to restore his health before help the child to restore his health before having the pull-through surgery. Some doctors do ostomy in having the pull-through surgery. Some doctors do ostomy in every child before doing the pull-through.every child before doing the pull-through.

In an ostomy, the doctor takes out the diseased part of the In an ostomy, the doctor takes out the diseased part of the intestine, then cuts a small hole called stoma then doctor intestine, then cuts a small hole called stoma then doctor connects the top part of the intestine to the stoma. Stool connects the top part of the intestine to the stoma. Stool leaves the body through the stoma while the bottom part of leaves the body through the stoma while the bottom part of the intestine heals.the intestine heals.

Stool goes into the Stool goes into the stoma bagstoma bag that is attached to the skin that is attached to the skin

around the stoma. around the stoma.

Colostomy and IleostomyColostomy and Ileostomy

If surgery entailed removal of the If surgery entailed removal of the entire large entire large intestineintestine, the small intestine are connected to the , the small intestine are connected to the stoma, the surgery is called an stoma, the surgery is called an ileostomyileostomy. .

If part of the large intestine is left, then it will be If part of the large intestine is left, then it will be connected to the stoma, the surgery is called a connected to the stoma, the surgery is called a colostomy colostomy

Later on, the pull-through surgery is performed, Later on, the pull-through surgery is performed, the intestines are disconnected from the stoma the intestines are disconnected from the stoma and attach just above the anus and the stoma and attach just above the anus and the stoma isn't neededisn't needed any more. In this case either the any more. In this case either the stoma is sewed up during surgery or sewed later stoma is sewed up during surgery or sewed later for about 6 weeks to make sure that the pull-for about 6 weeks to make sure that the pull-through surgery is working well through surgery is working well

Visible transitional zone in mid-sigmoid colon.Visible transitional zone in mid-sigmoid colon.

Operative photograph showing a sleeve rectal mucosectomy being Operative photograph showing a sleeve rectal mucosectomy being

performed down to the anus.performed down to the anus.

Visible transitional zoneVisible transitional zone

Gross photograph (of another patient) of a distal colonic segment Gross photograph (of another patient) of a distal colonic segment resected for Hirschsprung disease. Note the dilated, proximal portion resected for Hirschsprung disease. Note the dilated, proximal portion

separated from the constricted distal portion by a transition zone. separated from the constricted distal portion by a transition zone.

Post-operative ComplicationsPost-operative Complications

Early : Early : Anastomotic Anastomotic leak leak Infection Infection

Late : Late : Obstruction Obstruction Enterocolitis Enterocolitis Incontinence Incontinence

Hospital care Hospital care

The nurses can teach the family and the child how to The nurses can teach the family and the child how to care for a stoma and can talk to you about your care for a stoma and can talk to you about your worriesworries. .

After a pull-through surgery, 9 out of 10 children After a pull-through surgery, 9 out of 10 children pass stool normally.pass stool normally.

Some children may have diarrhea for a while, and Some children may have diarrhea for a while, and babies may develop a sever diaper rash, eventually babies may develop a sever diaper rash, eventually the stool will become more solid and the child will the stool will become more solid and the child will need to go to the bathroom less often. need to go to the bathroom less often.

Toilet training may be delayed, as the child learns Toilet training may be delayed, as the child learns how to use the bottom muscles only after pull-how to use the bottom muscles only after pull-through surgery.through surgery.

Older children might stain their underwear for a Older children might stain their underwear for a while after the surgery. It is not their fault. They while after the surgery. It is not their fault. They can't control this problem, but it improves with time.can't control this problem, but it improves with time.

Diet and NutritionDiet and Nutrition

Drinking plenty of liquids is important after Drinking plenty of liquids is important after surgery for HD to make sure his body gets surgery for HD to make sure his body gets enough fluids.enough fluids.

An infant who has long-segment disease An infant who has long-segment disease requiring an ileostomy may need special requiring an ileostomy may need special tube feedings to make up for what is lost.tube feedings to make up for what is lost.

Eating high-fiber foods like cereal and bran Eating high-fiber foods like cereal and bran muffins can help reduce constipation and muffins can help reduce constipation and diarrhea.diarrhea.

Infections (Infections (enterocolitis).enterocolitis). EnterocolitisEnterocolitis can be life threatening for a child with can be life threatening for a child with

Hirschsprung's disease, It can happen before or after Hirschsprung's disease, It can happen before or after surgery, so watch for the serious signs and call your doctor surgery, so watch for the serious signs and call your doctor immediately if they occur.immediately if they occur.

Serious signs as:Serious signs as:

fever, swollen abdomen, vomiting and diarrhea, bleeding fever, swollen abdomen, vomiting and diarrhea, bleeding from the rectum, sluggishness and drowsinessfrom the rectum, sluggishness and drowsiness

In the case of In the case of enterocolitis,enterocolitis, the child should be admitted the child should be admitted

to the hospital: to the hospital:

In the hospital, an intravenous (I.V.) line may be needed to In the hospital, an intravenous (I.V.) line may be needed to keep body fluids up and to deliver antibiotics to fight the keep body fluids up and to deliver antibiotics to fight the infection. infection.

The large intestine will be rinsed The large intestine will be rinsed regularly with a mild salt water regularly with a mild salt water solution until all remaining stool has solution until all remaining stool has been removed. The rinse may also been removed. The rinse may also contain antibiotics to kill bacteria.contain antibiotics to kill bacteria.

When the child recovers from When the child recovers from infection, then surgery is advised, infection, then surgery is advised, and colostomy or ileostomy is done and colostomy or ileostomy is done before the child leaves the hospital. before the child leaves the hospital.

Having healthy Having healthy babiesbabies

Best wishes Best wishes Maha HmeidanMaha Hmeidan