Hirschsprung’S Disease

(Hirschsprung’s disease; Hirschsprung’s disease)

Hirschsprung’s disease is a congenital anomaly with a lack of innervation of the lower intestine, which is mostly limited to the colon, leading to a partial or complete obstruction. The symptoms are constipation and bloating. The diagnosis is made by barium enema and biopsy. The anal manometry can help in the diagnosis and shows lack of relaxation of the internal anal sphincter. The treatment is surgical.

Hirschsprung’s disease is a congenital anomaly with a lack of innervation of the lower intestine, which is mostly limited to the colon, leading to a partial or complete obstruction. The symptoms are constipation and bloating. The diagnosis is made by barium enema and biopsy. The anal manometry can help in the diagnosis and shows lack of relaxation of the internal anal sphincter. The treatment is surgical.

(See also Congenital abnormalities of the gastrointestinal tract in the overview.) The Hirschsprung’s disease is a congenital anomaly with a lack of innervation of the lower intestine, which is mostly limited to the colon, leading to a partial or complete obstruction. The symptoms are constipation and bloating. The diagnosis is made by barium enema and biopsy. The anal manometry can help in the diagnosis and shows lack of relaxation of the internal anal sphincter. The treatment is surgical. Hirschsprung’s disease is caused by the congenital absence of the autonomous Meissner and Auerbach plexus in the intestinal wall (Aganglionse). The estimated incidence is 1 out of 5000 live births. The disease is usually limited to the distal colon (75% of cases), but may involve the entire colon or even the entire colon and small intestine. The denervated area is always contiguous. Men are affected more often – the ratio of male to female is 4: 1, unless the entire colon is involved. In this case, there is no difference between the sexes. It is believed that the etiology of Hirschsprung ‘s disease is the failure of the migration of neuroblasts from the neural crest. There is a significant genetic component of this disease and at least 12 different genetic mutations associated with Hirschsprung’s disease. The probability of disease among the family members increases with increasing length of the intestine concerned: 3-8% for a disease of the distal colon and up to 20% for a disease that affects the entire colon. About 20% of patients with Hirschsprung’s disease have a different congenital anomaly, and about 12% have a genetic abnormality (Down syndrome is the most common). About 20% of patients with congenital central hypoventilation syndrome also have Hirschsprung’s disease; the combination is called Haddad syndrome. About 40% of patients with intestinal neuronal dysplasia (IND) have Hirschsprung’s disease. There is no or only an abnormal peristalsis in the affected segment, which leads to permanent spasms of smooth muscle, causing a partial or complete obstruction of the accumulation of intestinal contents and an extreme dilation of the proximal, normal innervated intestine. So-called “skip lesions” never occur. Symptoms and signs Most patients come very early in the treatment, some in childhood and some even in adulthood. Normally, 98% of newborns have a meconium within the first 24 hours of life. Approximately 50 to 90% of newborns with Hirschsprung’s disease do not have meconium within the first 48 hours of life. The infant is constipation, abdominal distension and ultimately a vomiting. Sometimes babies have a very short piece of intestine aganglionic only mild or intermittent constipation with intervening episodes of mild diarrhea, so the diagnosis is delayed. In older infants and children, anorexic symptoms may indicate constipation, they have no physiological urge to defecate and at the rectal examination, the rectal ampulla is empty in a previously palpable in the colon chair that explosively evacuated during the retraction of the examining finger (so-called “blast sign “). Toddlers can also have a failure to thrive. Less commonly toddlers have Hirschsprung enterocolitis. Diagnostic barium enema Rectal biopsy Sometimes rectal manometry The diagnosis of Hirschsprung’s disease should be made as early as possible. The longer the disease goes untreated, the greater the risk of developing Hirschsprung enterocolitis (toxic megacolon), which can run fulminant and deadly. Most cases can be diagnosed in early childhood. Initial a barium enema and / or a rectal biopsy be initiated. The barium enema may show a transition between the dilated, normally innervated colon proximal to the distal narrow segment that lacks the normal innervation. The barium enema should be carried out without prior preparation as the preparation can dilate the abnormal segments and therefore does not lead to diagnosis. Since the characteristic features in the neonatal period are not available, one should 24 hours later create a new X-ray. Is still filled at this time with barium the colon, the diagnosis of Hirschsprung’s disease is likely. Rectal biopsy shows the absence of ganglion cells. The staining with acetylcholinesterase can show the enlarged nerve stumps. Some centers also perform rectal manometry, which discloses the lack of relaxation of the internal anal sphincter, which is characteristic of the abnormal innervation. The confirmation of the diagnosis requires a biopsy of the deeper layers of the rectum or colon to recognize the full extent of the disease and to plan the surgical procedure. Tips and Risks A barium enema with Hirschsprung’s disease should be carried out without prior bowel preparation. Hirschsprung’s disease with permission of the publisher. From Forest A .: Gastroenterology and Hepatology: Colon, rectum, and anus. Edited by M. Feldman (Series Editor) and C.R. Boland. Philadelphia, Current Medicine, 1996. var model = {thumbnailUrl: ‘/-/media/manual/professional/images/hirschsprungs_disease_high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/ – / media / manual / professional / ? images / hirschsprungs_disease_high_de.jpg lang = en & thn = 0 ‘, title:’ Hirschsprung’s disease ‘, description:’ u003Ca id = “v37897624 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eBariumeinlauf in a patient with Hirschsprung ‘s disease to the splenic flexure. The aganglionic bowel is narrowed and spastic (right)

Health Life Media Team

Leave a Reply