Find information on thousands of medical conditions and prescription drugs.

Hirschsprung's disease

Hirschsprung's disease, or aganglionic megacolon, involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards. The length of bowel that is affected varies but seldom stretches for more than a foot or so. more...

Hairy cell leukemia
Hallermann Streiff syndrome
Hallux valgus
Hantavirus pulmonary...
HARD syndrome
Harlequin type ichthyosis
Hartnup disease
Hashimoto's thyroiditis
Hearing impairment
Hearing loss
Heart block
Heavy metal poisoning
HELLP syndrome
Hemifacial microsomia
Hemolytic-uremic syndrome
Hemophilia A
Hemorrhagic fever
Hepatic encephalopathy
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatocellular carcinoma
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary ceroid...
Hereditary coproporphyria
Hereditary elliptocytosis
Hereditary fructose...
Hereditary hemochromatosis
Hereditary hemorrhagic...
Hereditary spastic...
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Herpes zoster
Herpes zoster oticus
Hidradenitis suppurativa
Hip dysplasia
Hirschsprung's disease
Hodgkin lymphoma
Hodgkin's disease
Horner's syndrome
Horseshoe kidney
Howell-Evans syndrome
Human parvovirus B19...
Hunter syndrome
Huntington's disease
Hurler syndrome
Hutchinson Gilford...
Hutchinson-Gilford syndrome
Hydatidiform mole
Hydrops fetalis
Hypereosinophilic syndrome
Hyperimmunoglobinemia D...
Hyperkalemic periodic...
Hyperlipoproteinemia type I
Hyperlipoproteinemia type II
Hyperlipoproteinemia type...
Hyperlipoproteinemia type IV
Hyperlipoproteinemia type V
Hypertensive retinopathy
Hypertrophic cardiomyopathy
Hypokalemic periodic...
Hypoplastic left heart...
Hypothalamic dysfunction

This disease is named for Harald Hirschsprung, the Danish physician who first described the disease in 1886, describing two infants who had died with swollen bellies. "The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon as the dominant features" (Madsen 17).

Hirschsprung’s disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation (Worman and Ganiats 487). The lack of ganglion cells, proven by Orvar Swenson to be the cause of the disease, disables the muscular peristalsis needed to move stool through the colon, thus creating a blockage. One in five thousand children suffer from Hirschsprung’s. Four times as many males get this disease than females. Hirschsprung’s develops in the fetus during the early stages of pregnancy. Typical symptoms for infants include not having their first bowel movement (meconium) within 48 hours of birth, and repeated vomiting. Some infants may have a swollen abdomen. Two thirds of the cases of Hirschsprung’s are diagnosed within three months of the birth. Occasionally symptoms do not appear until early adulthood. A barium enema is the mainstay of diagnosis of Hirschsprung’s.

The usual treatment is "pull-through" surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells (National Digestive Diseases Information Clearinghouse). For a long time, Hirschsprung’s was considered a multi-factorial disorder, where a combination of nature and nurture were considered to be the cause (Madsen 19). However, in August of 1993, two articles by independent groups in Nature Genetics said that Hirschsprung’s disease could be mapped to a stretch of chromosome 10 (Angrist 351). This research also suggested that a single gene was responsible for the disorder. However, the researchers were unable to isolate the single gene that they thought caused Hirschsprung’s.

Genetic basis

In 2002, scientists thought they found the solution. According to this new research, the interaction of two variant genes caused Hirschsprung’s. RET was isolated as the gene on chromosome 10, and it was determined that it could have dominant mutations that cause loss of function (Passarge 11). An important gene that RET has to interact with in order for Hirschsprung’s to develop is EDNRB, which is on chromosome 13. Six other genes were discovered to be associated with Hirschsprung’s. According to the study, these genes are GDNF on chromosome 5, EDN3 on chromosome 20, SOX10 on chromosome 22, ECE1 on chromosome 1, NTN on chromosome 19, and SIP1 on chromosome 2. These scientists concluded that the mode of inheritance for Hirschsprung’s is oligogenic inheritance (Passarge 11). This means that two mutated genes interact to cause a disorder. Variations in RET and EDNRB have to coexist in order for a child to get Hirschsprung’s. However, although six other genes were shown to have an effect on Hirschsprung’s, the researchers were unable to determine how they interacted with RET and EDNRB. Thus, the specifics of the origins of the disease are still not completely known.


[List your site here Free!]

APN's Guide to Pediatric Constipation Management, The
From Nurse Practitioner, 7/1/04 by Mason, Debby

Childhood constipation can result from a complex interaction in a child's development, gastrointestinal physiology, nutritional intake, and parental expectations. While the majority of childhood constipation is functional, organic etiologies must be ruled out first.

* Incidence

Constipation and soiling are common problems in children. In a study by Issenmann et al, 16% of parents of 22-month-old children reported constipation in their toddlers. Of these children who presented with constipation, between 38% and 65% had demonstrated symptoms before 6 months of age. ' Defecation disorders are the chief complaint in 3% of all pediatric outpatient visits and 25% of pediatric gastroenterology consultations.2

Gender distribution of constipation varies with age. In toddlers and preschoolers, there is no gender difference in the prevalence of constipation. It is seen more frequently in prepubertal boys than girls. After puberty, constipation is three times more frequent in females than in males. Constipation occurs more commonly in children if a parent or sibling experiences the condition.

Less than 5% of children have an organic or anatomic cause for their constipation. For example, Hirschsprung's disease is found in less than 1% of children with constipation. Anorectal malformation, another organic cause of constipation, occurs in 1 of every 5,000 children; spina bifida occurs in 1 of every 1,000 newborns in the United States. Other organic causes of constipation are even less prevalent.

* Definitions of Constipation and Encopresis

Constipation is a symptom, not a disease. Generally, the longer the duration of symptoms prior to diagnosis, the more difficult treatment becomes. Current studies indicate that the time from onset of symptoms to diagnosis is usually 1 to 5 years or longer.3 In most cases, the problem of constipation is of short duration and of little consequence; however, chronic constipation often follows an inadequately managed acute problem.

Before working with a child who is constipated, it is important to obtain a clear description of what is meant by the term "constipation," since in many instances, normal patterns of defecation are misinterpreted due to personal, familial, or social expectations.4 Despite its common occurrence, constipation has no single definition upon which practitioners or parents agree.

Generally, patients consider constipation in reference to the character and consistency of the stool rather than the frequency; however, constipation is defined as a stool frequency of fewer than three times a week and a change in consistency.5,6 Typically, when a child is constipated, the stools are hard, dry, and small. At its least severe, constipation may be defined as a delay or difficulty in passing stools for 2 or more weeks, which is significant enough to cause distress for the child or family.

Soiling, a complication of constipation often associated with fecal impaction, is defined as an involuntary passage of stool. Soiling results from relaxation of the external anal sphincter after a prolonged period of contraction, resulting in muscle fatigue. Encopresis is the voluntary or involuntary passage of stool in an inappropriate way (other than in a toilet) at regular intervals (at least once per month) after the usual age of toilet training (about 4 years of age).4 Although the precise pathophysiology of encopresis is unclear, it appears that the chronically impacted rectum and anal canal prevents the external sphincter from contracting appropriately. The child with encopresis has no sense of urgency or fullness. Primary encopresis occurs when the child has never been toilet trained. Secondary encopresis occurs when the child was completely toilet trained and then subsequently regresses to incontinence. Soiling or encopresis occurs in about 3% of 4 year olds and 1.5% of 10 year olds. A minority of children experience soiling without any history of constipation.

* Etiology of Functional Constipation

The two most common causes of functional constipation in childhood are difficulty with the expulsion of stool and drying of the fecal mass in the colon.4 Usually, the problem begins when the passage of stool is painful, and the child begins to withhold stool in an attempt to avoid the discomfort. Withholding consists of voluntary contraction of the external sphincter in an attempt to push the stool back up into the sigmoid colon. The sigmoid then accommodates the fecal mass and the urge to defecate is postponed. Postponing defecation results in larger amounts of hard stool in the rectum which, when eventually passed, causes even more pain. This is often accompanied by screaming and stool-withholding behaviors. In time, this retentive behavior becomes an automatic reaction. Refusing to sit on the toilet, particularly during times of pain, is common. This pain-based etiology is supported by data that 63% of children with encopresis have a history of painful defecation beginning before 36 months of age.3

Sometimes psychosocial Stressors like the birth of a sibling, parental disharmony, or a move may result in a "control issue" with the child. Since the child cannot change these events, he may start to "control" his bodily functions, leading to constipation.

Any change in the defecatory mechanism that prevents feces from entering the rectum or causes it to remain in the rectum too long will cause constipation. Pathogenic mechanisms include decreased amplitude of colonie contraction, as seen in spinal cord injuries; decreased voluntary expulsive power, as in a weak diaphragm or abdominal wall imperfections; and various forms of partial pelvic outlet obstruction, as in an anteriorly displaced anus, Hirschsprung's disease, and voluntary stool holding.

* History and Physical Examination

The history begins by determining the family's definition of the term "constipation." Important data to collect include the length of time the condition has been present; a description of the stools, frequency, pain, or straining; history of fecal or urinary incontinence; or urinary tract infections and other medical conditions. Other pertinent information includes the child's usual stooling pattern, a nutritional assessment, activity level, and medications or laxatives used. Psychosocial and situational factors may also provide valuable information. Assess the child's interpersonal relationships and review the family's technique of toilet training, including situational factors such as bathroom availability and privacy.

Abdominal distention, nausea, vomiting, decrease in appetite, lethargy, fever, weight change, or failure to thrive may be signs of an organic disorder. Fecal soiling may be mistaken for diarrhea by some parents. Bloody mucoid diarrhea in an infant with a history of constipation could be an indication of enterocolitis complicating Hirschsprung's disease.

The physical examination of the child with chronic constipation begins with a thorough general evaluation, including anthropometric measurements, a careful examination of the thyroid gland, bony irregularities, abdominal examinations, anal sphincter tone, and general neurologic assessment. The neurologic examination should include testing for the abdominal and cremasteric reflex and lower extremity deep tendon reflexes to evaluate for underlying neurologic dysfunction. It is important to inspect the lower back to rule out evidence of spinal cord involvement. Lesions suggestive of spinal cord involvement include hairy or hyperpigmented patches, gluteal fold asymmetry, cutaneous dimples (particularly off the midline), sinus tracts, and lipomas.

When the abdomen is examined, it should first be inspected for any distention and then auscultated for bowel sounds, noting frequency and character. The abdomen is then percussed and lastly palpated to assess for stool in the colon. The abdominal examination is suggestive for stool impaction; however, in about half of the impacted patients, the condition is undetected.7 Occasionally, the mass may extend throughout the entire colon, but more commonly, it is palpated suprapubically in the midline, sometimes filling the left or the right lower quadrant.

The final step of the physical assessment is a rectal exam. Firm-packed stool in the rectum has a positive predictive value of over 84% for the diagnosis of nonorganic constipation. For this examination, it is important to use both inspection and palpation. Stroking the perineal area with a cotton-tipped swab should cause reflex constriction. This is referred to as the "anal wink" and indicates intact sacral function.

A rectal examination may be an aversive experience, so it is important to explain the procedure to the child. First, inform the child that the examination is not painful, but he may feel as if his bowels have to move. If developmentally appropriate, instruct the child to hold his breath and bear down by performing a Valsalva maneuver. With the child on his left side with knees drawn up to the chest, lubricate a gloved finger and place the pad of your finger gently against the anal verge. The sphincter should tighten, then relax. As the sphincter relaxes, flex the fingertip and insert it gently into the canal in a direction toward the umbilicus. Rotate the examining finger to palpate the entire muscular ring. The canal should feel smooth and even.

An empty contracted anal canal in a constipated child may suggest Hirschsprung's disease. A dilated, stool-filled anal canal indicates functional constipation. A patulous anal sphincter indicates abnormal innervention, as seen in children with spina bifida.

Most infants and children with constipation require minimal laboratory workup. Stool for occult blood is recommended in all constipated infants and children. To rule out abnormalities of thyroid or adrenal hormones or electrolyte imbalances (hypothyroidism, hypercalcemia and hypokalemia), blood tests may be performed. Female children may need a urine culture to rule out urinary tract infection secondary to perineal soiling.

A plain abdominal film helps in assessing the presence of retained stool, its extent, and whether the lower spine is normal. It may also prove useful in a child who vehemently refuses the rectal examination or has other psychological factors (such as sexual abuse) that make the rectal examination overly traumatic. An abdominal film may also be needed in a child who is markedly obese, making abdominal palpation difficult.

If results of the examination demonstrate no other findings of constipation except infrequent bowel movements, consider a bowel transit study.

* Differential Diagnosis

Constipation has a broad range of differential diagnoses; however, the vast majority of patients (90% to 95%) have no particular cause for their symptoms and are labeled as having chronic functional (nonorganic) fecal retention. There is no single factor responsible for nonorganic constipation. Inherited characteristics, psychological make-up, and painful defecation all contribute to constipation. If suspected by history or results of physical examination, organic conditions such as anatomical, neurological, endocrine, and metabolic causes should always be ruled out. Fistulas, abscesses, and hemorrhoids rarely occur in children.

* Treatment of Constipation

According to guidelines, treatment for constipation includes education, clean-out, medication maintenance, and follow-up (see Table: "Medications for Constipation Treatment").8 The family should be informed that treatment generally takes at least 6 to 12 months to ensure a successful outcome. This is an important first step to avoid unrealistic expectations for a quick cure. Proper attention to each of these areas is imperative to successful outcomes. In the first week of treatment, it is important to begin by cleaning out any hard stool or impaction. The rectum must be empty to initiate treatment. This clean-out is done either by giving high doses of oral medications or by giving a series of enemas. As a general rule, oral clean-outs are easier on the child. Possible exceptions include those with neuromuscular disorders and anorectal malformation. For children who refuse high doses of oral therapy, a nasogastric administration of polyethylene glycol/electrolyte solution may be necessary. This approach usually requires a brief hospital admission.

Over the next 6 to 12 months, the child is placed on maintenance management where oral laxatives are given along with a high-fiber diet, increased fluids, behavior modification, and reinforcement. Children with constipation usually have a fiber intake well below the recommended guidelines. A simple formula for recommendation of daily grams of fiber intake is the child's age in years plus 5 up to age 20.

* The Role of Dietary Fiber

The need for adequate dietary fiber intake for bowel function is well known. Increased dietary fiber causes a softer, bulkier stool to move through the gastrointestinal tract more quickly. To increase fiber in children's diets, more emphasis should be placed on the consumption of high-fiber breakfast cereals, breads, and crackers, as well as an increased intake of fresh fruits and vegetables.10 The recommendation of dietary fiber for children older than 2 years of age is this formula10:

age in years + 5 = number of grams of fiber/day.

Fiber supplements for children are not recommended as a means of meeting dietary fiber goals; however, they may be medically recommended as an adjunct to dietary treatment of constipation. Because increased dietary fiber intake increases water retention in stool contents, which then leads to bulkier and softer stool, water intake should be increased.

Establishing a toilet-sitting schedule (20 minutes after meals 2 to 3 times a day for 10 to 15 minutes) to take advantage of the gastrocolic reflex will help. When using the toilet, the child needs privacy and unhurried time. It is recommended to use a timer to prevent the child from constantly asking when he can get up. When sitting on the toilet, the child needs to be encouraged to press the feet flat on the floor, or if the child is small, to use a bench or foot stool. Proper positioning on the toilet will facilitate defecation. A parent should use positive reinforcement for sitting and stool results. Keeping a calendar and recording stool passage will give the child evidence of success. Instruct parents to offer initial reinforcement frequently. As success is achieved, reinforcement may be slowly withdrawn.

The next phase is the weaning phase and includes gradual tapering of laxatives as well as continued encouragement of a high-fiber diet and adequate fluid intake. Throughout all phases of therapy, evaluation, reassurance, and support are necessary.

Treatment failures can occur in up to 20% of children with constipation.9 Children who are most likely to fail are those with a long history of constipation or those who have found secondary gain.

The goal of constipation treatment is for the child to have regular soft, formed bowel movements without pain and to extinguish the fear associated with defecation. Structured follow-up visits with the focus on education to help prevent, cope with, and treat recurrences are necessary. For appropriate evaluation and progress, it is recommended that the care provider see the child at 2 weeks, 1 month, 3 months, and 6 months. Timing of continued follow-up is based on the progress obtained during this initial time-frame.


The authors thank Cheryl Stuckey, Executive Secretary, for her assistance with the manuscript.

CE Test

The APN's Guide to Pediatric Constipation Management


* Read the article beginning on page 13.

* Take the test, recording your answers in the test answers section (Section B) of the CE enrollment form. Each question has only one correct answer.

* Complete registration information (Section A) and course evaluation (Section C).

* Mail completed test with registration fee to: Lippincott Williams & Wilkins, CE Group, 333 7th Avenue, 19th Floor, New York, NY 10001.

* Within 3 to 4 weeks after your CE enrollment form is received, you will be notified of your test results.

* If you pass, you will receive a certificate of earned contact hours and an answer key. If you fail, you have the option of taking the test again at no additional cost.

* A passing score for this test is 10 correct answers.

* Need CE STAT? Visit for immediate results, other CE activities, and your personalized CE planner tool.

* No Internet access? Call 1-800-933-6525 for other rush service options.

* Questions? Contact Lippincott Williams & Wilkins: 646-674-6617 or 646-674-6621.

Registration Deadline: July 31, 2006

Provider Accreditation:

This Continuing Nursing Education (CNE) activity for 1.5 contact hours is provided by Lippincott Williams & Wilkins, which is accredited as a provider of continuing education in nursing by the American Nurses Credentialing Center's Commission on Accreditation and by the American Association of Critical-Care Nurses (AACN 11696, CERP Category A). This activity is also provider approved by the California Board of Registered Nursing, Provider Number CEP 11749 for 1.5 contact hours. LWW is also an approved provider of CNE in Alabama, Florida, and Iowa and holds the following provider numbers: AL #ABNP0114, FL #FBN2454, IA #75. All of its home study activities are classified for Texas nursing continuing education requirements as Type I. This activity has been assigned 0.5 pharmacology credit.

Your certificate is valid in all states. This means that your certificate of earned contact hours is valid no matter where you live.

Payment and Discounts:

* The registration fee for this test is $12.95.

* If you take two or more tests in any nursing journal published by LWW and send in your CE enrollment forms together, you may deduct $0.75 from the price of each test.

* We offer special discounts for as few as six tests and institutional bulk discounts for multiple tests. Call 1-800-933-6525 for more information.


1. Issenmann RM, Hewson S, Purhonen D, et al: Are chronic digestive complaints the result of abnormal dietary patterns? Am J Dis Child 1987; 141:679-682.

2. Mohner D, et al: Anorectal manometry results in defecation disorders. Arch of Dis Child 1983;58:257-261.

3. Lewis LB, Rudolph CD: Practical approach to defecation disorders in children. Pediat Ann 1997; 26: 260-267.

4. Levy J: A practical approach to pediatric gastroenterology. Chicago, IL: Year Book Medical Publishers Inc., 1988; 90-95.

5. Constipation in Children. Emedicine Consumer Health 2003. Found at:

6. Constipation in Children. How do I know if my child is constipated? American Academy of Family Physicians 2004. Found at:

7. Loening-Baucke V: Chronic constipation in children. Gastroenterology 1993;105:1557-1564.

8. University of Michigan Health System. Functional constipation and soiling in children. Ann Arbor (MI): University of Michigan Health System; 2003 Feb. National Guideline Clearinghouse. Found at :

9. Buttross S: Encopresis in the child with a behavioral disorder: when the initial treatment does not work. Pediatri Ann 1999;25(5): 317-321.

10. Williams CL, Bollela M, Wynder EL: A new recommendation for dietary fiber in childhood. Pediatrics 1995;96: 985-988.

Debby Mason, RN, MSN, CPNP

Nan Tobias, RN, MSN, CS, PNP

Marlene Lutkenhoff, RN, MSN

Marilyn Stoops, RN, MSN, CPNP

Denise Ferguson, RN, MSN, CPNP


The authors have disclosed that they have no significant relationships or financial interests in any commercial companies that pertain to this education activity.


At Cincinnati (Ohio) Children's Hospital, Debby Mason is an Educational Nurse Specialist, Marilyn Stoops is a PNP with the Department of Pediatric and Thoracic Surgery, Denise Ferguson is a CPNP in the Department of Pediatric Urology and manages patients in the Voiding Dysfunction Center, Marlene Lutkenhoff is a Clinical Nurse Specialist in the Division of Developmental Disabilities, and Nan Tobias is a PNP in Pediatric Urology.

Copyright Springhouse Corporation Jul 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

Return to Hirschsprung's disease
Home Contact Resources Exchange Links ebay