Hirschsprung Disease and Hirschprung Enterocolitis

 

Dr. Klauer, an emergency physician, in a recent Audio Digest Pediatrics lecture (1), discussed the case of 12-day-old infant boy who had had no bowel movements for two days. He was formula fed and he had no fever and no anorexia. His physical examination showed a respiratory rate of 32 and the current weight of 2 ounces less than his birth weight. His heart rate was 180 bpm. The patient did not appear ill but apparently had slight abdominal distention and hyperactive bowel sounds. He had an abdominal series which showed constipation and mild distention. He was given a suppository which produced a large defecation. And so the patient was discharged home with the diagnosis of constipation caused by iron and the baby formula and a formula change was prescribed.

Nine days later the patient returned to the emergency department. He had a temperature of 101.4° and abdominal distention. Physical examination showed a distended abdomen and subcostal retractions. His abdomen was tympanitic. The abdominal x-ray series showed multiple dilated loops of bowel and it was said to be consistent with intussusception. App autopsy the patient was found to have aganglionic megacolon.

And the patient died from Hirschbrung enterocolitis. So what follows is my review of the disease.

What follows is from Pediatric Radiology, third edition: (2)

Hirschstrung disease, or colonic aganglionosis, occurs in one in 4500 live births. Is characterized by an absence of ganglion cells in the myenteric plexus, not….In 85% of cases, the aganglionosis involves the distal sigmoid and rectum,.

Clinically, the diagnosis is often made within the first month of life (80%). Usually (90%) a newborn with Hirschstrung disease presents with failure to pass encomium within 24 hours; abdominal distention is common. In 15% of patients [the case that Dr. Klauer presents above] there may be development of enterocolitis, which manifests itself as explosive watery stool, fever, and sometimes shock; these patients have a mortality rate of 20% to 30% unless prompt treatment is instituted.

In the newborn, imaging with conventional abdominal radiographs typically shows “low” obstruction with multiple error fluid levels and the distention of the bowel. In older children there may be abundant stool and a distended:. In neonates whose conventional radiographs show (low) bowel obstruction, the differential diagnosis includes meconium ileus, meconium plug syndrome, and atresia or stenosis of small bowel (or rarely:).

Contrast examination of the colon is a common screening test for Hirschstrung disease although its value may be limited in the first month of life it’s sensitivity increases with advancing age and the examination is very useful in patients older than six months. A straight catheter should be used and prepared so that no more than 1 to 1.5 cm of it enters into the rectum. Otherwise, a very low transition zone may be missed.

The imaging evaluation, if inconclusive, is followed by rectal manometer and suction biopsy. If this procedure does not establish the diagnosis, a full thickness biopsy specimen is taken at least 2 to 3 cm above the dentate line.

What follows is from Pediatric Hirschbrung Disease: (3)

The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the mortality from Hirschsprung disease.

Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. Approximately one half of children affected with this disease are diagnosed before they are aged 1 year. A small number of children with Hirschsprung disease are not recognized until much later in childhood or adulthood.

During the newborn period, infants affected with Hirschsprung disease may present with abdominal distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A family history of a similar condition is present in about 30% of cases.
Nearly one half of all infants with Hirschsprung disease have a history of delayed first passage of meconium (beyond age 36 h), and nearly one half of infants with delayed first passage of meconium have Hirschsprung disease.

Children with Hirschsprung disease may be malnourished. Poor nutrition results from the early satiety, abdominal discomfort, and distention associated with chronic constipation.
Older infants and children typically present with chronic constipation. This constipation often is refractory to usual treatment protocols and may require daily enema therapy.
Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease. Enterocolitis typically presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea, as well as vomiting. If not recognized early, enterocolitis may progress to sepsis, transmural intestinal necrosis, and perforation.

Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal distention and symptoms of intestinal obstruction. Individuals in this age group may also present with acute enterocolitis or with neonatal meconium plug syndrome.
Children with Hirschsprung disease are usually diagnosed by age 2 years.
Older infants and children with Hirschsprung disease usually present with chronic constipation. Upon abdominal examination, these children may demonstrate marked abdominal distention with palpable dilated loops of colon. Rectal examination commonly reveals an empty rectal vault and may result in the forceful expulsion of fecal material upon completion of examination.
Less commonly, older children with Hirschsprung disease may be chronically malnourished and/or present with Hirschsprung enterocolitis.

What follows is from Hirschsprung’s-associated enterocolitis (4)

Hirschsprung’s-associated enterocolitis (HAEC) is a complication of Hirschsprung’s disease.

Risk factors for HAEC include:

Undiagnosed Hirschsprung’s disease—It is usually diagnosed in infancy. But it may not be diagnosed until your child is older.

  • Pull-through surgery—This is surgery to treat Hirschsprung’s disease. The unhealthy area of the colon is removed. Then, the healthy colon is joined to the rectum.
  • Down syndrome —HAEC occurs in nearly half of Down syndrome patients who have Hirschsprung’s disease.
  • Long section of colon affected by Hirschsprung’s disease—The risk of HAEC is greater when long sections of the colon are affected.

Symptoms may include:

  • Bloated abdomen
  • Severe diarrhea
  • Vomiting
  • Fever
  • Lethargy
  • Poor feeding
  • Rectal bleeding
  • Shock

For information on long term followup of the disease and for followup of enterocolitis, please see references 4 and 5.

Resources:

(1) GI EMERGENCIES, Audio Digest Pediatrics, Vol 60, 42. Nov 14, 2014.

(2) Pediatric Radiology, third edition, 2009

(3) Pediatric Hirschsprung Disease www.emedicine.medscape.com  [accessed 12/3/2014]

(4) Hirschsprung’s-associated enterocolitis from the Department of Medicine, NYU Langone Medical Center [accessed 12-3-2014].

(5) Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review [PubMed Abstract]. Menezes M et al, Pediatr Surg Int. 2006 Dec;22(12):987-90.

(6) Long-term outcome of patients with enterocolitis complicating Hirschsprung’s disease [PubMed Abstract]. Menezes M et al. Pediatr Surg Int. 2006 Apr;22(4):316-8. Epub 2006 Feb 4.

 

 

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