Understanding Hirschsprung disease: Symptoms, diagnosis and treatment

Hirschsprung disease, also known as congenital aganglionic megacolon, is a rare but significant gastrointestinal disorder that affects infants and children.

It's characterized by the absence of nerve cells (ganglion cells) in the lower part of the colon, leading to an inability to pass stool properly. In this article, we shed light on the various aspects of Hirschsprung, including its symptoms, diagnosis and treatment options.

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Symptoms of Hirschsprung disease

Hirschsprung disease symptoms often manifest shortly after birth, although in milder cases, they may not be evident till later in infancy or childhood. Common symptoms include:

Chronic constipation: Infants and children with Hirschsprung experience severe constipation, which does not improve with usual remedies.

Abdominal distension: A distended abdomen may be noticed due to the accumulation of stool and gas.

Failure to pass meconium: Failure to pass meconium (the earliest stool of a newborn) within 24 to 48 hours of birth is a hallmark of Hirschsprung.

Slow growth and delayed puberty: In more severe cases, affected children may exhibit slow growth and delayed puberty due to chronic nutritional issues.

Enterocolitis: A potentially life-threatening condition, enterocolitis, can occur when the bowel becomes inflamed, leading to fever, diarrhea and abdominal pain.

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Diagnosis of Hirschsprung disease

Early detection of Hirschsprung is critical for avoiding complications and providing timely treatment. (Tatiana Syrikova/Pexels)

Early diagnosis of Hirschsprung disease is crucial to prevent complications and provide timely treatment. Several diagnostic methods can help identify the condition:

Medical history and physical examination: A detailed medical history and a thorough physical examination can provide important clues, especially if the newborn has not passed meconium within the expected time frame.

Barium enema: This diagnostic test involves introducing a contrast material into the rectum and colon, followed by X-rays. The absence of contrast in certain areas may indicate Hirschsprung.

Rectal biopsy: A biopsy is considered the gold standard for diagnosing Hirschsprung disease. During this procedure, a small tissue sample is taken from the rectum to assess the presence of ganglion cells. The absence of ganglion cells confirms the diagnosis.

Anorectal manometry: This test measures the pressure and muscle activity in the anus and rectum to evaluate the nerve function responsible for bowel movements.

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Treatment options for Hirschsprung disease

Early detection and treatment are critical. (Laura Garcia/ Pexels)

Once diagnosed, the management of Hirschsprung typically involves surgery. The primary treatment goal is to remove the affected segment of the colon and create an effective passage for stool.

Pull-through procedure: The most common surgical approach is the pull-through procedure.

In this surgery, the aganglionic portion of the colon is removed, and the healthy portion is pulled through and connected to the anus. That allows for a more normal bowel function.

Staged surgery: In some cases, particularly when the child is very young or severely ill, a staged surgery approach may be employed. This involves multiple surgeries over time to gradually remove the affected colon.

Post-surgery care: After surgery, children may experience some temporary complications, like bowel obstruction or infection. However, with appropriate post-operative care and follow-up, most children can lead healthy lives.

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Hirschsprung disease is a rare congenital disorder that affects the proper function of the colon. Timely diagnosis and treatment are crucial to prevent complications and improve the quality of life for affected children.

Early recognition of symptoms, along with accurate diagnostic methods, can aid in providing appropriate surgical intervention. With advances in medical science and expert care, the outlook for children with Hirschsprung continues to improve, offering hope for a brighter future.