Intestinal Obstruction: Intussusception, Hirschsprung Disease & Peutz–Jegher Syndrome

Intussusception

Intestinal obstruction is the obstruction of food or liquid, which causes malabsorption and related symptoms like weight loss and depressed general growth. This depressed growth is very evident in babies. A newborn baby is dependent on its mother’s breast milk, and when even that is not being utilized by the body, there are some great deficits seen in the baby. 

One such type of intestinal obstruction is intussusception, which occurs when one portion of the GI tract is telescoped into another. The Most common cause of intestinal obstruction happens in the age group of 5 months to 6 years of age. The Most common type of intussusception is the Ileocolic type. It is said that the Swollen peyer's patches in response to GI infection or introduction of new food items usually act as a lead point to intussusception. The child usually experiences Intermittent severe colicky pain in the abdomen. A pathognomic sign that we can find in children is the presence of Red currant jelly stools. 

A Sausage-shaped palpable mass is also palpated in the abdomen.

Most of the time, seeing their child poop out red stools, mothers might get worried. Here, it becomes very important for a young doctor to console and reassure the parents. In such cases, it becomes very important to talk to the family and have an open conversation about the child’s status. In the case of intussusception, USG has good sensitivity in the diagnosis. When this child is brought for the Barium enema procedure, it shows a Coiled Spring Sign or Claw Sign.

Intussusception is Spontaneously resolved in about 10% of the patients. In 90% of the cases, a doctor must perform hydrostatic reduction under fluoroscopic or USG guidance. In this procedure, water is put in the telescoped portion, and the intestine is expected to get normalized. However, there might be situations where this does not work, and hence, surgery might be required. A Surgical reduction may be required if the child has developed Refractory shock when we suspect intestinal perforation or necrosis and when there are Multiple recurrences of episodes of intussusception or peritonitis.

Hirschsprung Disease

It is also known as Congenital Aganglionic megacolon. It occurs due to premature arrest in the descent of neural crest cells, which form the ganglion cells in the intestine. In about 80% of the cases, the Rectum and sigmoid colon are affected. There is No peristaltic movement and no unfolding of the involved area. The main pathology is that the affected area cannot relax due to Dilatation of the proximal normal intestine. Hirschsprung disease is the most common cause of lower intestinal obstruction in neonates. 

Neonates may present with failure to pass (or delayed passage) of meconium (greenish-black due to bile pigments), abdominal distension, bilious vomiting, and feed intolerance. The reason for the Dilatation of proximal normal bowel & abdominal distension is increased Intraluminal pressure and Decreased blood flow. This leads to the deterioration of the intestinal mucosal barrier & thus, causes stasis. This stagnation Proliferates the growth of bacteria and causes Enterocolitis. 

Hirschsprung Disease can be diagnosed by a Rectal section Biopsy, which is considered the gold standard for investigating it. On the biopsy, we observe the absence of ganglion cells and hypertrophy of nerve trunks.

The treatment for Hirschsprung Disease is surgery. The involved segment needs to be surgically excisioned, and the normal segment needs to be anastomosed. IV antibiotics and General supportive care are provided if the neonate gets enterocolitis.

Also Read: Acute Kidney Injury in Pediatrics

Bowel Atresia

Duodenal Atresia accounts for 25-40% of all cases of atresia in neonates. The neonate presents to the hospital with the Hallmark sign of “Bilious vomiting without abdominal distention.” About 50% of cases have a history of polyhydramnios. When the abdomen is radiographically imaged under X-ray, a pathognomic Double Bubble Sign is seen.

Also Read: How to Prepare Gynaecology and Obstetrics for Medical PG Entrance exams?

Peutz–Jegher Syndrome

This is the last noteworthy type of intestinal obstruction. This variant has an autosomal dominant inheritance, and thus, a positive family history is a must. 

The patient will have Mucocutaneous pigmentation. Polyps are also mainly seen in the small intestine, most commonly in the Jejunum, Ileum, and duodenum. Hamartomatous polyposis (colonic/gastric polyps) are also seen and often present with abdominal cramping & bleeding.

This disease is concerning as it predisposes a child to cancer of the breast, colon, rectum, and reproductive organs. The overall lifetime risk of cancer in these patients is 47-90%, which is fairly high. Thus, regular GI surveillance with upper & lower GI endoscopies is recommended. These screening tests are started in childhood at 8 years of age or when symptoms first appear.

Also Read: Bed Wetting: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Complications

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