Hirschsprung’s disease
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Hirschsprung’s disease is a developmental disorder that is present at birth but may not be diagnosed until later childhood. It is characterized by defecation difficulty of failure. The disease is often called congenital megacolon, because the proximal colon may become grossly enlarged with impacted feces, or congenital aganglionosis, because the ganglia of the intestine. Mutations in RET or endothelia genes account for the disease in some patients.
Enteric neurons may be absent in the rectosigmoid region only, in the descending colon, or in the entire colon. The aganglionic region appears constricted as a result of continuous contractile activity of the circular muscle, whereas the normally innervated intestine proximal to the aganglionic segment is distended with feces.
The constricted terminal segment of the large intestine in Hirschsprungs disease presents a functional obstruction to the forward passage of fecal material. Constriction and narrowing of the lumen of the segment reflects uncontrolled myogenic contractile activity in the absence of motor neurons.
Symptoms:
Symptoms appear right after a baby is born
1. Failure to pass stool within the first or second day of life.
2. Constipation of gas, which may a newborn
3. Vomiting
4. Diarrhea
In older children symptoms are
a. Swollen abdomen
b. Lack of weight gain
Pathology:
Pathologically by absent ganglion cells in the myenteric (Auerbach’s) & submucosal (Meissner’s) plexus. The neurogenic abnormality is associated with muscular spasms of the distal colon and internal anal sphincter resulting in a functional obstruction.
Diagnosis:
1. Radiology
2. Barium enema shows rectum is wider than the sigmoid colon.
3. Failure of the completely evacuate the installed contrast material after 24 hours would also consider with Hirschsprung’s disease.
4. Anorectal manometer shows failure of the internal sphincter to relax when the rectum is distended with a balloon.
5. Rectal biopsy is the gold standard for diagnosed Hirschsprung’s disease, absent ganglia, hypertrophied nerve trunks, & robust immunostaining for acetylcholinesterase are the pathologic criteria to make the diagnosis.
Management:
Multiple surgical options exist:
a. Diverting colostomy
b. Swenson procedure aganglionic bowel is removed and a coloanal anastomosis on the perineum.
c. Duhamel procedure.
Complication: Constipation is the most frequently post operative problem followed by soiling, incontinence, and enterocolitis.
References:
1. Short practice of surgery, Bailey and love 25th edition.
2. Short practice of surgery, Sabiston 18th edition.
3. Medical physiology, Lippincott Williams & Wilkins 3rd edition.
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