Total colonic aganglionosis
Total colonic aganglionosis
Description, Causes and Risk Factors:
The state of being without ganglia; e.g., absence of ganglion cells from the myenteric plexus as a characteristic of congenital megacolon. Total colonic aganglionosis (TCA) accounts for approximately 3% to 12% of all infants with HD. The prevalence in boys and girls is nearly equal.
Total colonic aganglionosis is a birth defect in which nerve cells known as ganglion cells are lacking in the large intestine. As a result, the large intestine cannot move stool through and becomes blocked, causing the abdomen to swell.
The majority of patients with aganglionosis are diagnosed in the neonatal period. Since it is unusual for a full term and premature neonate not to have a stool within 24 hours and 48 hours, respectively, the first sign may be the failure to pass a first stool without assistance. This is followed by abdominal distension and vomiting.
Sometimes the disease is subtle, and is not suspected until later. In older children, there is almost always a history of never having had a normal bowel movement. Most of these children have a markedly protuberant abdomen. Advanced disease may result in watery diarrhea (as only liquid can get by the obstructed stool), colitis (bacterial overgrowth and inflammation of the colon), and even life-threatening sepsis (blood borne infection).
Total colonic aganglionosis remains a serious surgical challenge. Patients suffering from the condition, have multiple complications, sequelae, and often require re-operations. We found that it is possible to prevent many of these by properly fixing the stoma, avoiding pouch or patch procedures, delaying ileostomy closure, having pathology expertise, and with meticulous surgical technique starting the dissection/anastomosis well above the dentate line.
Symptoms may include:
Abnormal bowel movement.
The customary approach to the diagnosis of total colonic aganglionosisis based on the existence of a single distal aganglionic region extending to the anal margin. Segmental aganglionosis, however, may involve only a limited segment of colon which is interposed between lengths of normal bowel. Awareness of this variant aids in the interpretation of the barium enema in children with signs and symptoms of aganglionosis, especially when the rectal biopsy is normal.
Other tests may include:
Barium enema: Contracted distal colon, abrupt transition to a dilatedproximal colon.
Anorectal manometry: Absence of relaxation of internal anal sphincter inresponse to rectal distention.
Suction rectal biopsy: Absence of ganglion cells. Should be done at 2-4 cmfrom dentate line; must have adequate submucosa.
Abdominal x-ray: Loops of distended intestine, increased air in rectum.
The diagnosis and treatment of TCA are difficult, but histological evaluation has been confirmed in the establishment of the diagnosis in recent years. Several surgical techniques have been utilized for the treatment of TCA. Nevertheless, little information is available for optimal management of recurrent complications caused by failed procedures.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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