Hirschsprung Disease in Children

Hirschsprung disease is a rare neurological disorder in which there is a lack of ganglionic cells in the myenteric nerve plexus. It is caused by a failure of ganglion cell precursors to migrate from the neural crest to the hindgut. Normally, this migration occurs during the fifth to twelfth weeks of gestation. During this period, the ganglionic segment of the bowel remains narrow and the aganglionic segment of the bowel is dilated and contains sparse ganglionic cells.

Symptoms

Hirschsprung disease is a rare ailment that usually presents in the infancy or early childhood. Only about one in five live births develops the disorder in adulthood. The first recorded case of Hirschsprung disease in an adult was in 1950, when it was diagnosed in a 54-year-old physician. Thereafter, the disease was only reported in adults on rare occasions in the literature. Masayuk and colleagues reviewed literature from the past fifty years and concluded that the mean age of diagnosis was 24 years, and half of the 229 cases were under 30 years.

If a child with Hirschsprung disease is experiencing severe abdominal distention, surgery may be necessary. Depending on the extent of the disease, a surgeon may need to perform a “pull-through” surgery, in which the affected portion of the intestine is removed and reattached to the anus (the stomach). In some cases, the surgeon may have to remove part of the colon as well. After the surgery, the child will have a functional intestine.

The primary pathogenetic defect in Hirschsprung’s disease is the absence of ganglionic cells in the hindgut. This defect results from failure of the migration of ganglion cell precursors from the neural crest into the hindgut. This migration normally occurs during the fifth to the twelfth week of gestation. During this time, the ganglionic segment of the intestine is narrow and the aganglionic segment is dilated.

Most children with Hirschsprung disease will display the symptoms of this condition soon after birth. However, some children may not show any symptoms at all until their adolescence. It’s important to see your doctor right away, as the symptoms may be signs of a bowel infection, which can cause sepsis. A doctor may refer you to a hospital for further tests.

One of the common symptoms of Hirschsprung disease is chronic constipation. Although constipation is a common digestive complaint, it is important to get a proper diagnosis to ensure that the disease is not a serious condition.

Diagnosis

Hirschsprung disease is an uncommon disorder affecting the colon. It affects one in 5000 live births and is caused by defects in the cranio-caudal migration of neuroblasts and neural crest. While adults rarely experience symptoms, a diagnosis should be made in cases of severe constipation. The disease can be treated by either surgery or conservative measures.

Hirschsprung disease usually manifests during childhood and infancy. It is rare to develop in adulthood. In fact, the first case of adult Hirschsprung disease was described in 1950 in a 54-year-old physician. After that, it was only occasionally reported in the literature. A study conducted by Masayuk et al. reviewed the literature for 50 years and found that the mean age of patients was twenty-four years. Half of the 229 cases were under 30 years of age.

The primary symptom of Hirschsprung disease in infants is the failure to pass stool. However, in adults, the disease may present with more severe symptoms, such as bloody diarrhea and constipation. In such cases, it is necessary to undergo a rectal biopsy. A contrast enema can be used to visualize the portion of the colon affected. In some cases, a calretinin immunohistochemistry or acetylcholinesterase immunohistochemistry can help to identify the disease.

Hirschsprung disease in adults can be difficult to diagnose because of its rarity. However, it can still be managed successfully. Diagnosis of Hirschsprung disease in adults is based on careful evaluation of symptoms and signs. It is important to treat the condition immediately if symptoms develop.

Hirschsprung disease in adults is characterized by chronic constipation. It is a rare disorder characterized by the lack of ganglion cells in the colon. Symptoms of Hirschsprung disease typically mimic long-term constipation and require great sensitivity to distinguish it from other conditions.

High-resolution anorectal manometry is the most reliable and specific test for Hirschsprung disease in adults. This procedure is usually done after surgery.

Treatment

Hirschsprung’s disease is a malformation of the large intestine. The disorder results in abnormal motor function of the colon and is caused by a lack of ganglion cells in the muscularis and submucosa. The condition can lead to a dilated colon and partial obstruction of the bowel. Generally, treatment involves surgery.

Hirschsprung disease affects one in every 5,000 live births. It is more common in boys than in girls. About 12% of cases are associated with another genetic disorder. Down syndrome and Mowat-Wilson syndrome are two of the most common underlying causes of Hirschsprung disease.

Hirschsprung disease in adults is treated with surgery. The doctor removes the affected part of the colon and reattaches the healthy section of the colon to the rectum. This procedure can be performed as one or two steps, depending on the severity of the condition. In the first procedure, the doctor removes the diseased section of colon and attaches it to the anus through a small hole in the abdomen.

In addition to surgery, Hirschsprung disease can be treated with medical therapy. For patients with severe signs, treatment may include a laparoscopy and Bouilly-Volkman procedure. During the surgery, the fecal impaction was removed intraoperatively, and a barium enema was performed afterwards. The barium enema revealed significant dilation of the colorectal wall and a narrowed transition zone. This condition can lead to dehydration and enterocolitis. It can also affect a child’s growth over a period of many years.

Hirschsprung disease in adults is a rare condition that presents diagnostic challenges. It’s important to understand the disease and treatment options. Treatment will depend on the severity of the condition and the child’s overall health. A child may receive surgery to remove a malfunctioning intestine or undergo a series of procedures for static stool.

The disease is characterized by the presence of a small intestinal segment, the submucosa, and an abnormality of the gastrointestinal wall. Symptoms of the disease range from mild to severe and may even be accompanied by fever. If the disease is not treated promptly, it may worsen and result in septic shock and intestinal perforation.

Complications

Hirschsprung disease in children usually causes symptoms to present themselves within a few weeks of birth, although this may vary depending on the length of the intestine involved. Some children with the condition will not have symptoms until adolescence or even early adulthood. A doctor will perform various tests and studies to make a correct diagnosis. These tests are painless and do not usually require overnight hospital stays.

Genetically, Hirschsprung disease is caused by mutations in the RET gene. This gene produces a signaling protein, which is necessary for the normal development of nerve cells in the intestine. If RET does not function properly, the cells will not be able to transmit signals within themselves and will not develop properly. The lack of nerve cells leads to intestinal complications.

Hirschsprung’s disease occurs in approximately one in five live births. It is characterized by the absence of ganglion cells in the first colorectal segment. As a result, this condition can result in functional obstruction and upstream colonic dilatation. Patients with chronic constipation should be evaluated for this disorder. The condition can be diagnosed through a combination of clinical, manometric, radiological, and histological findings. Treatment involves surgical resection of the affected aganglionic segment and re-establishing the continuity between two healthy segments.

If a child has this disease, doctors may conduct several tests to ensure the condition isn’t worsening. A rectal biopsy can reveal whether a part of the intestine is blocked. X-rays may also show whether the intestine is bulging. A small piece of the intestine may also be removed and examined under a microscope.

Hirschsprung disease is a serious medical condition that can cause severe abdominal pain, abdominal distention, and even a blockage of the intestine. The condition can be life-threatening. The symptoms of a severe case include abdominal pain and fever, and explosive diarrhea. In severe cases, the patient can develop intestinal perforation, which can lead to serious complications, such as sepsis and toxic megacolon.

Children with Hirschsprung disease can still experience problems after surgery. These problems vary depending on the size of the portion of the intestine that was removed during surgery and the condition of the anus, rectosigmoid, and colon. Some children may continue to experience symptoms of this condition, including constipation and bowel control problems.