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Symptoms, diagnosis and causes of hirschsprung's disease

Symptoms, diagnosis and causes of hirschsprung's disease

Symptoms, diagnosis and causes of hirschsprung's disease

Symptoms, diagnosis and causes of hirschsprung's disease

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Hirschsprung’s disease is a congenital disease involving the muscles of large intestines. It results from absence of nerve cells in a segment of large intestines which leads to impaired muscular contraction of intestinal muscles. It is usually diagnosed in first few weeks after birth. It is not a curable disease but it can be treated with appropriate surgical correction.

Incidence, age and sex

Hirschsprung’s disease is not a very common occurrence in the general population. It is present since birth and has about four times higher predilection for males as compared to females.

Signs and symptoms

The clinical features of Hirschsprung’s disease are evident within a few weeks after birth, in most of the cases. Inability to pass meconium (first stool) within 24 hours of birth is usually the first sign of this disease. Milder form of disease may be difficult to detect during early infancy. However, other features like distended abdomen, vomiting, diarrhoea and poor weight gain may appear later and lead to suspicion of Hirschsprung’s disease.

Loops of swollen bowel may be detected on palpation during a clinical evaluation. Sigmoid colon or rectum is usually affected. The diagnosis can be established by rectal biopsy wherein small tissue sample is taken and studied microscopically. Absence of nerve ganglion cells in the tissue sample confirms the diagnosis of Hirschsprung’s disease. Other investigations like rectal manometry or barium enema may be considered, if needed.

Causes and prevention

Hirschsprung’s disease results from the absence of nerve cells in the muscles of the large intestine especially the sigmoid colon and rectum. The exact cause of absence of these nerve cells is not clear. In normal individuals, the food in the intestines moves forward by rhythmic contractions of the intestinal muscles. These contractions are termed as peristalsis. However in Hirschsprung’s disease, a particular segment of the large intestine does not have nerve cells to stimulate and coordinate muscle contractions. Absence of such muscle contractions leads to accumulation of food matter in the affected segment.

Complications

There are high chances of rupture or even infection of the affected intestinal segment. Longstanding cases may result in malnutrition and poor weight gain

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for hirschsprung's disease treatment >

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