Intestinal diseases

ERNICA covers the following diseases within the intestinal diseases working group.

Hirschsprung's Disease

Due to the absence of nerve cells, the intestine cannot work the stool outwards.

Duodenal atrasia and small bowel atresia

Is a medical condition where a portion of the bowel is blocked.

Necrotizing Enterocolitis

Is a medical condition where a portion of the bowel dies.

Sacrococcygeal teratoma

Sacrococcygeal teratoma (SCT) is a tumor that forms on a fetus’ tailbone, also called the coccyx. The tumors are usually not cancerous (benign) but can be life-threatening if not treated.

Note: eUROGEN (The European Reference Network for rare and complex urogenital conditions) and ERNICA overlap in clinical scope in regards to Hirschsprung's Disease and Anorectal Malformations. Whilst Hirschsprung's disease is officially covered by ERNICA, Anorectal Malformations are officially covered by eUROGEN. Here you can find the expert coverage for Anorectal Malformations within eUROGEN.

Hirschsprung's disease

In weeks 5-10 of pregnancy, the nerve cells from the brain gradually grow downward via the oesophagus, stomach, small intestine and large intestine. Sometimes these nerve cells do not reach the very last part of the intestine. This is the case with Hirschsprung's disease, named after the discoverer, the Danish paediatrician Harald Hirschsprung (1830-1916). Due to the absence of nerve cells, the intestine cannot work the stool outwards. The poop accumulates, causing the intestine to expand. Hirschsprung’s disease can sometimes occur in combination with, for example, Down's syndrome.

Experts from the ERNICA network have developed a European guideline for the management of rectosigmoid Hirschsprung’s disease patients.

Hirschsprung guideline for professionals

An ERNICA summary of the guideline for clinicans has also been produced in different languages

English

Finnish

Swedish

Diagnosis is based on suction rectal biopsy of rectal mucosa and submucosa that shows aganglionosis, thickened extrinsic nerve fibers and overexpression of acetylcholinesterase. Recently, it has been shown that calretinin immunohistochemistry is useful. Assessment for associated anomalies allows the detection of syndromic HSCR. Plain abdominal radiography, lower gastrointestinal contrast studies, and ultrasound are useful in excluding alternative diagnoses.

Treatment is surgical. It consists in resection of the aganglionic segment together with the transition zone followed by anastomosis of the proximal bowel to the anal margin. Different techniques including minimal invasive surgery as well as transanal surgery are applied. Type of surgery is dependent on the patient, length of aganglionosis and preference of the surgeon. Small bowel aganglionosis can lead to intestinal failure. In case of total intestinal aganglionosis, intestinal transplantation may be required.

Overall survival and functional prognosis are good in rectosigmoid or long-segment Hirschsprung, despite issues with constipation and continence even following surgical correction. Functional prognosis of total colonic Hirschsprung's is acceptable. The prognosis for children with small bowel or total intestinal aganglionosis leading to intestinal failure can be poor although intestinal transplantation is attempted to offer long term survival in complicated cases. Hirschsprung enterocolitis occurs in 30-50% of the cases but reacts well to treatment in most cases.

Duodenal atresia and small bowel atresia

Duodenal atresia
Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Sometimes there is still a passage to distal, mostly when there is a duodenal web.

Intestinal atresia
Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine. The different types of intestinal atresia are named after their location: jejunal-, ileal- and colon atresia. The most common cause of non-duodenal intestinal atresia is a vascular accident in utero that leads to decreased intestinal perfusion and ischemia of the respective bowel segment. This leads to narrowing, or in the most severe cases, complete obliteration of the intestinal lumen. In the case that the superior mesenteric artery, or another major intestinal artery, is occluded, large segments of bowel can be entirely underdeveloped. Classically, the affected area of bowel assumes a spiral configuration and is described to have an "apple peel" like appearance; this is accompanied by lack of a dorsal mesentery. Ileal atresia can also result as a complication of meconium ileus.

Necrotizing Enterocolitis

Necrotizing enterocolitis (NEC) is a severe medical condition affecting the bowel (intestine). NEC is mostly seen in very preterm born infants. It may also affect term born infants with a medical condition, such as heart disease or abdominal abnormalities. NEC causes an inflammatory process leading to damage of the intestinal tissue. NEC can progress very quickly and can be fatal. In severe cases large parts of the bowel can be affected, potentially leading to parts of the bowel dying (necrosis). The cause of NEC is multifactorial. Underlying mechanisms include intestinal immaturity, abdominal microbial colonization and increased immune reactivity of the intestinal mucosa. Risk factors for NEC include extremely preterm birth, low birth weight and formula feeding. Prevention mainly includes the use of breast milk, supplemented with donor milk, and probiotics. NEC commonly causes intolerance of milk feeds with abdominal pain and distention. Other symptoms may include blood in the stool, vomiting of bile and signs of infection. The signs and symptoms of NEC can also be seen in patients who do not have NEC. Diagnoses of NEC is based on symptoms and confirmed with radiological imaging of the abdomen.

Treatment primarily consists of bowel rest (stopping milk feeds and a nasogastric tube), intravenous nutrition ('drip') and antibiotics. Intensive supportive medical care is needed to monitor vital functions and to support breathing, blood pressure and pain treatment. About half of the patients recover well with medical treatment alone. More severe cases require a surgical operation under general anesthetics. During surgery, severely affected portions of the intestine can be removed, and bowel perforations can be closed. Some of the patients need a temporary enterostomy ('stoma'). Babies who have undergone surgery usually have a more prolonged recovery and a smaller chance of survival. Short-term complications include wound infections, feeding problems and prolonged hospitalization. Long-term complications may include poor intestinal function, short bowel syndrome or neuro developmental delay (motor of cognitive problems).