Hirschsprung disease is a developmental disorder characterized by absence of If a rectal biopsy does not show ganglion cells, revision of the. Publisher: Introducción: La enfermedad de Hirschsprung (EH) o Métodos: A través de la revisión de la historia clínica, se estudió la evolución. Palavras-chave: Doença de Hirschsprung; Megacolo congênito; Incontinência fecal. Introduction . Revisión: Enfermedad de Hirschsprung. Rev Ped Elec.

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Enfermedad de Hirschsprung en el adulto. Hirschsprung’s disease is characterized by absence of ganglion cells in submucosal and myenteric plexus of distal bowel. Definition Hirschsprung disease HD is an area of the colon large intestine that has stopped working the right way.

Enfermedad de Hirschsprung

The enfetmedad of HD in adults is much harder than in children, due to their rarity as they are often short or ultrashort aganglionic segments, which produce mild symptoms in early stages of the disease. We report a case of a year-old male patient that was admitted in the Emergency Department because of a massive megacolon that required a total colectomy with ileum-rectal anastomosis.

Family members with the disease Presence of Down Syndrome Presence of other birth defects. The goal of surgery is to remove the part of the colon that does not work the right way.

Some cases involve gene mutations for endothelin-B receptor. This is an open-access article distributed under the terms of the Creative Commons Attribution License. An analysis of patients. Suele diagnosticarse en el periodo neonatal, siendo muy poco frecuente que se descubra en el adulto.

It can then be joined to the rectum so that stool can pass through. Colostomy or ileostomy—If the bowel is infected, damaged, or if a large area is being removed, an ostomy may be needed. The pathologist’s report showed the existence of ulceration foci with acute inflammation in the submucosa.

Hirschsprung disease in the newborn. In addition, the reported symptoms caused the girl’s parents to begin to justify such a fact as a result of some psychological, rather than organic, disorder. Other things that may raise your child’s chance of HD are: Pathogenesis of Hirschsprung’s disease. The disadvantage of this technique is that it requires a new intervention to restore the intestinal transit. Recuperado a partir de https: This surgery is considered curative.


A CT scan is a useful tool, not only to show the transition zone, but to exclude other causes of chronic constipation and megacolon in adults, such as colorectal cancer, volvulus, stricture, slowing of colonic motility, Chagas disease, anatomical or functional obstruction to defecation or idiopathic megacolon 2.

A year-old male was admitted in the Emergency Department by generalized abdominal pain accompanied by anorexia of several days duration.

Another option in these cases is the realization of an end ileostomy following colectomy, to avoid the risk of a possible wound dehiscence, as it happened in our case. A new surgical approach to enfeermedad aganglionosis. Hirschsprung’s Disease HDalso known as congenital aganglionic megacolon, is an anomaly characterized by an absence of ganglion cells in the myenteric and submucosal plexuses in a variable bowel segment. Other proposed mechanisms include defects in the neuroblast differentiation and accelerated destruction of hirschprung cells in the intestine 4.

We report a case not previously diagnosed, which presented as a massive colonic dilatation with a maximum diameter of 44 cm, with imminent risk of drilling that forced to perform an emergency surgery.

Mechanisms of idiopathic constipation: Case Report Ebfermedad year-old male was admitted in the Emergency Department by generalized abdominal pain accompanied by anorexia of several days duration. HD is a congenital anomaly that occurs due to a hirxchsprung of the cranial-caudal migration of neural crest cells, which are responsible for innervation of the colon, or when the ganglion cells undergo premature death between 5th and 12th weeks of pregnancy.

The surgical approach will depend on length of aganglionic area, length and reversibility of colonic dilatation, and nutritional status of patient. The rectal biopsy should be made on the back side of rectum, about 6 cm height, and it shows absence of ganglion cells, nerve hirwchsprung hyperplasia and an increased level of acetylcholinesterase 7. Compared with the Soave and Swenson procedures, it is superior in terms of impotence rate, anastomotic dehiscence and reservoir function to minimize soiling 8.

Hirschsprung Disease

Fifty per cent of the patients are younger than 30 years of age 3. Failure to have a bowel movement within the first 24 hours of life Vomiting after eating Swelling of the belly Symptoms found in older infants and children are: This segment is everted and extracted by transanal way. A hypothesis of HD was proposed; thus an anorectal manometry was asked, but its result was inconclusive due to patient’s lack of enferrmedad. In this latter case, HD may affect the entire colon and even the small intestine.

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After 24 hours, the patient presented hemodynamic instability, with severe abdominal pain.

Nowadays its incidence in adult is unknown as this diagnosis is often overlooked in adult population 4. Previous history of meningioma operated inintestinal resection in childhood unknown etiologychronic constipation, smoker of 20 cigarettes per day and moderate drinker.

Some patients reach adulthood without a diagnosis for this disease. The absence of ganglion cells results in permanent contraction of the affected segment, preventing the passage of fecal content through that region. Comparison with c1inical amI radiological criteria.

With diagnostic methods already established in the literature, the sole treatment is surgery. The healthy colon above the area is pulled down through the affected area.

Hirschsprung Disease | Primary Health Group – Chippenham

Gordon PH, Nivatvongs S. The patient suffered from sensory aphasia episode, being diagnosed with ischemic stroke, with good recuperation without sequelae. Approximately cases have been reported in literature. This information is neither intended nor implied to be a substitute for professional medical advice.

In our case, we are in a situation of irreversible dilatation of entire colon, so we opted for a total colectomy, restoring intestinal transit by ileo-rectal anastomosis. Ohservations in the inmunocytes ano macrophages in megacolon.

Diagnóstico tardio da doenc¸a de Hirschsprung

If you have one child with the disease, you could have more children with the disease. Achalasia of distal rectal segmento Pediatr. Typically, patients go to the doctor with a long-standing history of constipation requiring frequent laxative use.