Hirschsprung’s Disease

Hirschsprung’s disease is the most common cause of lower intestinal obstruction in neonates. It is also called aganglionic megacolon. It is a congenital anomaly caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel. The defect begins in the internal anal sphincter and extends proximally for a variable length. It is more common in males than females. It is suggested that the condition is caused by interaction between two proteins encoded by two genes RET Proto-oncogene on chromosome 10 and EDNRB gene on chromosome 13.

Whenever there is an absence of the ganglion cells there is a lack of peristalsis in the affected: causing accumulation of the gas and faces leading to the enlargement of the colon resulting in a megacolon. The condition presents with failure to pass meconium, abdominal distension, bile-stained vomiting, shock, episodes of diarrhea & constipation in neonates and Infants. Presents with constipation with abdominal distension, foul smell while passing the stools, malnourishment, and anemia in older children.

Hirschsprung’s disease is suspected in a baby who has not passed meconium within 48 hours of birth. Rectal examination, Palpation, Anorectal manometry, Barium enema, and Rectal biopsy help in diagnosing the condition.

Hirschsprung’s Disease: Causes

Various factors contribute to the development of the condition. The following are the important causes of the development of Hirschsprung’s disease −

• Following are the important causes of developing Hirschsprung’s disease −

• The condition is suggested to occur genetically transferring from generation to generation due to mutation in certain genes

• Degeneration of the ganglions may occur due to a decreased blood supply

• After certain surgeries of the bowel which causes a decrease in blood supply leading to a degeneration of the ganglions

• Trypanosoma infection can also result in this condition

• Vitamin B1 deficiency

• certain chronic infections like tuberculosis

• The condition can occur associated with various anomalies of the cardiovascular system gastrointestinal system urogenital system

• Premature babies can also develop this condition

Hirschsprung’s Disease: Symptoms

The patient with Hirschsprung’s disease mainly presents with the following symptoms that include −

The symptoms vary depending on the age of the person

In new-borns and infants, the condition presents −

• Failure to pass meconium within 24 hours after the birth. All the babies who do not pass meconium within 48 hours after birth should be evaluated for Hirschsprung’s disease

• Distension of the abdomen

• Bile strain vomiting that is yellowish to greenish

• The child can go into the shock

• Loose stools

• Constipation that is difficulty in passing stools

In older children, the condition presents with −

• Constipation

• Distinction of the abdomen

• Foul smelling during the passage of the stone and this tool is usually liquid in consistency

• The child may appear malnourished such as weight loss, appear weak, dry skin, and fatigue

• The child may be weak and look pale due to anemia

Hirschsprung’s Disease: Risk Factors

Several factors play an important role in increasing the risk of development of Hirschsprung’s disease which includes −

• An individual with a family history of Hirschsprung’s dresses is at more risk of developing the condition

• The condition affects males more commonly than the females

• babies with premature birth and low-weight babies are at increased risk of developing the condition

• Maternal factors such as smoking, using drugs, and any infections during the pregnancy can affect babies with this condition

• The condition can occur associated with other congenital conditions such as Down syndrome congenital heart diseases and developmental delay

Hirschsprung’s Disease: Diagnosis

The diagnosis of Hirschsprung’s disease is mainly done based on history and some of the tests may be required for confirmation and to rule out underlying causes

• History of failure to pass meconium, painless abdominal distension & constipation arise suspicion of the disease

• Physical examinations to look for a Distended abdomen with Multiple fecal masses on abdominal examination and also look for other congenital anomalies associated with the condition

• Rectal examination shows a characteristically hypertonic anal sphincter and the rectum is typically empty.

• Plain x-rays of the abdomen taken in Erect and supine position

• Contrast Enema may be done that shows a narrow distal segment, funnel-shaped dilatation at the level of transition zone with marked dilatation of the proximal colon. 24-hrs delayed films are important in diagnosis; it shows poor emptying with barium throughout the colon, as opposed to the child with psychogenic stool holding in whom the barium generally collects in the distal rectosigmoid.

• Rectal biopsy is the definitive diagnostic test and demonstrates the absence of ganglion cells, nerve hypertrophy, and stains indicating increased acetylcholinesterase activity. Suction mucosal biopsy at different levels is taken. Can be done without anesthesia. A full-thickness biopsy is done under general anesthesia.

• Electro manometry can be used as a screening tool in infants & children. The classic finding is the absence of the recto anal inhibitory reflex when the rectum is distended. A balloon is inflated in the rectum to measure pressure in the area

• Ultrasonography may be advised to look for associated anomalies along with the condition

Hirschsprung’s Disease: Treatment

The treatment is based on the severity of the symptoms. Your doctor may advise conservative or surgical treatment.

Conservative Treatment

Conservative treatment includes 

• Decompression where a rectal tube is inserted and irrigation of the hard fecal matter is done

• To relieve chronic constipation laxatives and stool softeners are given

• Saline enema may also be advised in some patients to treat the constipation

Surgical Treatment

Surgical treatment may be required in severe cases which include:

• The surgery is done in two stages. Initially colostomy and after a year or two definitive procedures and closing of the stoma are done.

• Many surgical options mainly aim at the resection of the aganglionic segment and anastomosing the two normal ganglionic ends.

Hirschsprung’s Disease: Prevention

There are no specific measures to prevent the condition as the exact cause is unknown but some of the majors can help to prevent the severity of the disease that include −

• Proper prenatal and antenatal care such as avoiding smoking drugs and proper treatment of infections during the pregnancy and regular medical check-ups is required

• Early diagnosis of the condition can help to prevent the complications such as bowel obstruction and enterocolitis

• Genetic counseling in a family with a history of Hirschsprung’s disease can help the family members know the risk of their child getting the disease

Conclusion

Hirschsprung’s disease is a condition that mainly occurs in neonates and children characterized by the congenital absence of ganglion cells in the submucosal and myenteric plexus of the intestine. Due to the migratory failure of neural crest cells leading to abnormal innervations of the bowel. The condition is mainly present with the inability to pass the meconium within 48hrs after the birth, abdominal distension, nausea, vomiting, and constipation.

The diagnosis of the condition is based on the history, physical examination, and certain investigations such as rectal biopsy, electro manometry, imaging tests, and contract barium studies may be required to confirm the diagnosis. The condition is treated conservatively with stool softeners, and enema, and surgical treatment is done in 2 steps with an initial colostomy followed by definitive surgery after a year.