Hirschsprung's Disease Overview

Congenital disorder where parts of the colon lack nerve cells, causing intestinal blockage.

A swollen colon caused by the absence of nerve cells in the colon.

Lack of wave-like muscle contractions in the intestine.

Failure to pass the first stool (meconium) within 24-48 hours after birth.

Inflammation of the small intestine and colon, a serious complication of Hirschsprung's disease.

Symptoms include fever, abdominal distention, constipation, vomiting, explosive diarrhea, and foul-smelling stool.

Using small amounts of salt water injected into the rectum to clear the bowels, often used for managing enterocolitis.

A diagnostic procedure in which a small tissue sample is taken from the rectum to confirm the diagnosis of Hirschsprung's Disease.

A type of X-ray procedure that uses barium contrast to visualize the colon. Should be avoided if a child has enterocolitis due to potential risk.

A test that measures the function of the nerves in the anus and rectum to check for the presence of nerve fibers in relation to Hirschsprung's disease.

Surgical removal of the aganglionic (without nerve cells) segment of the colon and connecting the healthy section to the rectum.

A procedure used to flush the colon in children with enterocolitis, a complication of Hirschsprung's disease. It involves irrigating the colon 3 times a day or more frequently to remove waste and reduce inflammation.

Colonic irrigation is not recommended for children who have undergone surgery for Hirschsprung's disease within the last 2 to 4 weeks. It can disrupt healing and increase the risk of complications.

A common condition in infants, where stomach contents flow back up into the esophagus, causing heartburn and other symptoms. It usually resolves by age 6-12 months.

If untreated, GER can lead to gastroesophageal reflux disease (GERD), which can damage the esophageal lining and cause complications like coughing, choking, and respiratory problems.

A rare complication of GER seen in infants where the head forcefully extends backward, resembling a seizure. It's caused by the reflux of stomach acid irritating the esophagus.

A surgical procedure for severe GER, where the top part of the stomach is wrapped around the lower esophagus to create a tighter barrier preventing reflux.

Medications for GER: H2 blockers (Tagamet, Pepcid) initially, then switched to PPIs (Prilosec, Prevacid) for better healing and long-term control.

Metoclopramide (Reglan), a medication to speed up gastric emptying, used cautiously in GER due to potential side effects but can help in certain cases.

A chronic inflammatory condition affecting the gastrointestinal tract, commonly the ileum, colon, and rectum. Different from GER, it's a more serious condition involving inflammation of all layers of the intestinal wall.

Causes of IBD are not fully understood but include infectious agents, food allergies, stress, and genetic predisposition. Some common triggers include viral infections and dietary changes.

A chronic inflammatory bowel disease affecting any part of the digestive tract, from mouth to anus, but most commonly affects the ileum and colon.

Symptoms include abdominal pain, diarrhea, fever, weight loss, fatigue, blood in the stool and mouth ulcers. Sometimes, symptoms may not be obvious.

Diagnosed through a combination of medical history review, physical exam, lab tests (CBC, ESR, etc.), stool analysis and imaging studies. Endoscopy with biopsies can confirm the diagnosis.

The main goal is to control inflammation, reduce symptoms and achieve long-term remission. Secondary goals include promoting normal growth and development.

Treatment involves medications like corticosteroids, aminosalicylates, immunodulators, and antibiotics. Anti-TNF drugs like infliximab and adalimumab are also used.

High calorie, high protein diet with multivitamins, iron and folic acid supplements. Enteral or parenteral nutrition might be needed in severe cases.

Surgery is not curative but can be used to drain abscesses, close fistulas, remove diseased bowel segments, and relieve obstructions.

A newborn's stomach can only hold 10 to 20 ml, but increases to adult size (2,000 to 3,000 ml) by late adolescence.

A newborn's stomach empties faster (2-3 hours) than an older infant (3-6 hours).

There is no cure, but outcome depends on severity of GI involvement, affected bowel regions and effective treatment. Long-term complication includes colon cancer.

Infants have a higher metabolic rate than adults, requiring 100 calories per kilogram of body weight compared to 30-40 calories for adults.

The lower esophageal sphincter (LES) in infants is relaxed, making regurgitation common.

Infants have a proportionally longer small intestine and a shorter large intestine compared to adults. This leads to soft, frequent stools.

Newborn's liver function is immature and it's larger than an adult's.

Up to 4-6 months, infants lack essential digestive enzymes like amylase, lactase, and lipase.

Infants' intestines are more permeable to proteins than adults, allowing cow's milk protein and allergens to enter the bloodstream.

A fine, superficial venous pattern visible on lightly pigmented infants, more prominent up to adolescence.

Unevenness in the abdomen may suggest a mass, enlarged organ, or distended organ, like the stomach or intestine.

Breathing is primarily abdominal, with the belly expanding and contracting.

Inspect for redness, swelling, and presence of umbilical hernia. Count for 2 arteries and 1 vein.

Heard every 10-20 seconds, low intensity, indicating normal digestive activity.

Use the same technique as with adults. Expect tympanic sounds due to air swallowing.

Start low and move upwards, gently feeling for organs and masses. Distract the child while doing so.

Liver: 1-2 cm below right costal margin. Spleen may be felt 1-2 cm below left costal margin in young children. Palpate gently due to vascularity.

Hirschsprung's disease is caused by a lack of nerve cells in a portion of the colon. This missing nerve tissue prevents the affected area from properly moving stool along, leading to a buildup of stool and a swollen colon.

The three main signs of Hirschsprung's disease are failure to pass meconium within 48 hours of birth, persistent constipation, and a swollen abdomen.

Enterocolitis is a serious complication of Hirschsprung's disease. It occurs when the intestinal wall becomes inflamed, swollen, and even damaged. It is a major cause of death in children with Hirschsprung's disease.

The most common treatment for Hirschsprung's disease is surgery to remove the affected section of colon and connect the healthy sections. This helps to restore normal bowel function.

Hirschsprung's disease affects about 1 in 5,000 babies. It is more common in boys than girls.

The aganglionic (no nerves) part of the colon is removed and the healthy part is connected to the rectum, allowing stool to pass normally.

Symptoms include abdominal pain, diarrhea, fever, weight loss, fatigue, blood in the stool and mouth ulcers.

The main goal is to control inflammation, reduce symptoms and achieve long-term remission.

Corticosteroids are used to mediate and control inflammation in Crohn's disease.

Aminosalicylates like sulfasalazine and mesalamine are anti-inflammatory medications used to treat Crohn's disease.

Immunomodulators like 6-mercaptopurine, azathioprine, methotraxate and cyclosporine are used to induce and retain remission in Crohn's patients who are steroid-resistant or dependent.

Anti-TNF drugs like infliximab and adalimumab are used to treat Crohn's, especially in patients who have had inadequate responses to other medications.

A birth defect where parts of the colon lack nerve cells, causing blockage and making it hard for waste to pass through.

A serious complication of Hirschsprung's disease where the small intestine and colon get inflamed, causing pain, fever, and changes in bowel movements.

A procedure to flush the colon with water to clear out waste and reduce inflammation, often used for enterocolitis.

Stomach contents flow back up into the esophagus, causing heartburn and other symptoms like coughing and choking.

A procedure to wrap the stomach around the esophagus, creating a tighter barrier to prevent reflux.

A chronic disease that causes inflammation in the digestive tract, often affecting the ileum, colon, and rectum.

The exact cause of IBD is unknown, but it's thought to be linked to genetic predisposition, triggers like infections, food allergies, and stress.