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==Overview==
==Overview==
Hirschsprung's disease involves an enlargement of the [[colon (anatomy)|colon]], caused by [[bowel obstruction]] resulting from an [[ganglion|aganglionic]] section of [[bowel]] (the normal [[Enteric nervous system|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.
Hirschsprung's disease involves an enlargement of the [[colon (anatomy)|colon]], caused by [[bowel obstruction]] resulting from an [[ganglion|aganglionic]] section of [[bowel]] (the normal [[Enteric nervous system|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.

Revision as of 14:44, 16 June 2017

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Overview

Historical Perspective

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Differentiating Hirschsprung's Disease from other Diseases

Epidemiology and Demographics

Risk factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory findings

Electrocardiogram

X-ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

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Medical Therapy

Surgery

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [3] Aditya Ganti M.B.B.S. [4]

Overview

Hirschsprung's disease 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.

Historical Perspective

This disease is named after 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.

Classification

Hirschsprung's disease may be classified based on the extent of colon involvement into rectosigmoid disease, long segment disease, and ultrashort segment disease.

Pathophysiology

Hirschsprung’s disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation. [1]

Causes

Hirschsprung's disease is caused by failure of migration of myentric and submucosal nerve plexuses craniocaudally into the distal part of the bowel.

Differentiating Hirschsprung's dieases from other diseases

Hirschsprung disease must be differentiated from other diseases that cause failure to pass meconium and abdominal distension in infants, such as meconium plug syndrome, small left colon syndrome and congenital hypothyroidism.

Epidemiology and Demographics

The incidence of Hirschsprung disease is 20 per 100,000 newborns. It is three times more common in Asian Americans. Males are more commonly affected than females.

Risk Factors

The most potent risk factor of Hirschsprung disease is a strong family history (multiple family members) of having the disease. Other risk factors include a family history of long segment disease running in the family or the proband being a female.

Screening

According to the USPSTF, screening for Hirschsprung disease is not recommended.

Natural History, Complications, and Prognosis

If left untreated, Hirschsprung disease can lead to enterocolitis and death. Common complications include enterocolitis, intestinal perforation and short bowel syndrome. After appropriate surgical intervention, mortality drops significantly.

Diagnosis

History and Symptoms

Hirschsprung's disease is commonly diagnosed in the neonatal period. The cardinal symptoms of Hirschsprung's disease include abdominal distension, delayed passage of meconium (not occurring in the first 24 to 48 hours of life) and vomiting. [2][3]

Physical Examination

Physical examination is nondiagnostic in newborns. it may reveal a distended abdomen and/or anal spasm. In older children, abdominal distension may result from the inability to release flatus.[3]

Laboratory Findings

There are no specific laboratory findings associated with hirschsprungs disease. All the blood tests and coagulation tests if done prior to surgery will be within the reference range.[3]

Xray

X-ray abdomen is the primary modality of choice in diagnosing Hirschsprung's disease. Findings include decreased bowel caliber of the involved segment along with colonic distension.

CT Scan

There are no specific CT findings associated with Hirschsprung's disease.

MRI

There are no specific CT findings associated with Hirschsprung's disease.

Other Imaging Findings

A barium enema is the mainstay of diagnosis of Hirschsprung’s disease.

Other Diagnostic Studies

A rectal biopsy showing the lack of ganglion cells is the only certain method of diagnosis.

Treatment

Medical Therapy

Surgery

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).

Prevention

References

  1. Worman and Ganiats 1995, Am Fam Physician 51, 487-494 [1]
  2. Stanescu AL, Liszewski MC, Lee EY, Phillips GS (2017). "Neonatal Gastrointestinal Emergencies: Step-by-Step Approach". Radiol. Clin. North Am. 55 (4): 717–739. doi:10.1016/j.rcl.2017.02.010. PMID 28601177.
  3. 3.0 3.1 3.2 Das K, Mohanty S (2017). "Hirschsprung Disease - Current Diagnosis and Management". Indian J Pediatr. doi:10.1007/s12098-017-2371-8. PMID 28600660.

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