Hirschsprung’s Disease (HD)

Prepared by:Krystel Joy Q. Joya

Definition

DefinitionHarold Hirschsprung, a Danish pediatrician,

is credited with the first definitive description of the disease that bears his name. Hirschsprung disease is also called aganglionosis, congenital aganglionic megacolon, congenital intestinal aganglionosis, and megacolon.

Also known as Congenital Megacolon.

DefinitionA congenital abnormality (birth defect) of the

bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel which occurs at 5th-12th week of the fetal development. Because stool cannot move forward normally, the intestine can become partially or completely obstructed (blocked), and begins to expand to a larger than normal size which will result to megacolon (massive enlargement of the bowel) above the point where the nerves are missing.

DefinitionScientist still do not know what causes the nerve

cells to not to form completely. Nothing has been shown to cause this problem, including medications a mother takes while pregnant or what a mother eats during pregnancy. Hirschsprung's disease occurs in 1 out of every 5,000 live births and occurs five times more frequently in males than in females. Children with Down syndrome have a higher risk of having Hirschsprung's disease. Seventy percent of babies with Hirschsprung's disease are missing nerve cells in only the last one to two feet of the large intestine.

DefinitionThere are a number of disorders in which

Hirschsprung disease is a feature. They include Down syndrome), Waardenburg syndrome, cartilage-hair hypoplasia, the Smith-Lemli-Opitz syndrome (type II) and primary central hypoventilation syndrome (known as Ondine's curse).

Signs and Symptoms

Signs and SymptomsThe main symptoms of HD are constipation

or intestinal obstruction, usually appearing shortly after birth however, each individual may experience symptoms differently. Eighty percent of children with Hirschsprung's disease show symptoms in the first 6 weeks of life. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem.

Symptoms in Newborns:not having a bowel movement in the first 48

hours of life.gradual onset of vomiting (green or brown

vomit)explosive stools after a doctor inserts a finger

into the rectumlots of gasfever

Symptoms in Newborns:bloody diarrheagradual bloating of the abdomen

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Symptoms of HD in toddlers and older children:not being able to pass stools

without laxatives or enemas (constipation that becomes worse with time)

lots of gasloss of appetiteslow growth or developmentpassing small, watery stools and bloody

diarrhealack of energy because of a shortage of red

blood cells, called anemia

Diagnosis

Diagnosis Plain abdominal x-ray or with contrast media

Plain abdominal x-ray will confirm intestinal obstruction

A contrast enema often shows the presence of a transition zone and irregular colonic contractions in the distal, aganglionic segment .Often, irregular mucosal ulcerations are seen on the contrast enema due to enterocolitis. Some have reported an even lower sensitivity for detecting HD with a contrast enema in neonates and believe that a contrast enema in the neonatal period should be cautiously interpreted. 

DiagnosisIt is important to use a water-soluble material

because the enema may potentially be a definitive treatment for other conditions in the differential diagnosis such as meconium ileus and meconium plug syndrome. In older children an unprepped barium enema should be done rather than a water-soluble contrast study. The absence of a transition zone is less common in this age group but may still be present due to a short aganglionic segment. In both neonates and older children, the most important view is the lateral projection, in which a rectal transition zone will be most evident

DiagnosisAnorectal Manometry

It is a test that measures nerve reflexes which are missing in Hirschsprung's disease. During manometry, the doctor inflates a small balloon inside the rectum. Normally, the rectal muscles will relax. If the muscles don’t relax, HD may be the problem. This test is most often done in older children and adults.

DiagnosisBiopsy of the rectum or large intestine

Biopsy is the most accurate test for HD. The doctor removes a tiny piece of the large intestine and looks at it with a microscope. If nerve cells are missing, HD is the problem.

DiagnosisFluoroscopy - contrast enema

A carefully performed contrast enema is indispensable in both the diagnosis of Hirschsprung disease but also in assessing the length of involvement. It should be noted however that the depicted transition zone on the contrast enema is not accurate at determining the transition between absent and present ganglion cells.

The affected segment is of small calibre with proximal dilatation. Fasciculation / saw-tooth irregularity of the agangliotic segment is frequently seen.

Treatment

TreatmentSurgical approaches to HD should only be considered

after the diagnosis has been firmly established by either suction or open rectal biopsy. Historically, a two- or three-stage repair was performed with the first stage consisting of a diverting colostomy usually leveled at the point where the transition zone was identified by seromuscular biopsy. The second stage, performed 3 to 12 months later, consisted of resection of the aganglionic bowel with a coloanal anastomosis. The colostomy was closed either during the pull-through operation or subsequently as a third-stage procedure.

Radiographic Correlation

Plain abdominal x-ray or with contrast media

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Figure 35-2 . A and B, These two barium enema examinations in different infants demonstrate Hirschsprung’s disease. The aganglionic rectum ( arrows) in both studies is small and contracted. The proximal ganglionic colon is dilated. A transition zone between the aganglionic and ganglionic colon is nicely seen in the both studies.https://www.clinicalkey.com/#!/ContentPlayerCtrl/doPlayContent/3-s2.0-B9781416061274000355/{"scope":"all","query":"hirschsprung disease"}

Figure 101-1. A, Water-soluble contrast enema demonstrating a transition zone at the splenic flexure. B, The lateral view is the most important one to identify a low transition zone. In this case the recto-sigmoid index, consisting of the ratio of rectal diameter ( R) to sigmoid diameter ( S), is less than 1.0. D. Retention of contrast on a 24-hour postevacuation filmhttp://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/

Anorectal Manometry

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Figure 35-3 A, In the child undergoing anorectal manometry without Hirschsprung’s disease, the rectoanal inhibitory reflex is normal. Note the drop in the internal sphincter pressure with rectal distention. B, A child with Hirschsprung’s disease is seen to have abnormally increased contraction of the anal canal and no relaxation of the internal sphincter with rectal distention. (The arrow points to the initiation of rectal distention in both A and B.)

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Biopsy of the rectum or large intestine

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Figure 35-4A, This biopsy specimen of normal ganglionated bowel has been stained with hematoxylin and eosin. A ganglion cell ( arrow) is seen in the submucosa. B, This rectal biopsy specimen in a neonate with Hirschsprung’s disease has been stained with hematoxylin and eosin. Ganglion cells cannot be found in the wall of the rectum. Also, the submucosal nerve trunks ( arrow) are noted to be greater than 40 μm in diameter, which strongly correlates with aganglionosis. C, This rectal biopsy specimen in a neonate with Hirschsprung’s disease has been stained with acetylcholinesterase. The increased staining in the mucosa and submucosa ( arrows) is diagnostic of Hirschsprung’s disease.

Fluoroscopy - contrast enema

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The narrow segment with serrated appearance involving recto-sigmoid junction is demonstrated on barium enema fluoroscopic examination, consistent with Hirschsprung's disease.

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Reference National Digestive Diseases Information Clearinghouse [NDDIC].

(2012, May 10). What I need to know about Hirschsprung Disease. Retrieved October 1, 2012, from http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/#1

Lucile Packard Children’s Hospital. (2012).Hirschsprung's Disease. Retrieved October 1, 2012, from http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/digest/hirschpr.html

MedicineNet. (2012, March 10). Hirschsprung's Disease. Retrieved October 1, 2012, from http://www.medicinenet.com/hirschsprung_disease/article.htm

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