Suction rectal biopsy in the diagnosis of Hirschsprung's disease and chronic constipation

The child with a typical history of chronic constipation, and with physical signs of a distended abdomen and an empty rectal ampulla, who is found to have a widely dilated colon with a narrow distal segment by the radiologist, presents no diagnostic problem. However, the diagnosis of Hirschsprung's disease may be very difficult to establish if part of the classical diagnostic criteria are absent or inconclusive. In such cases, the authors have found rectal biopsy to be a useful diagnostic procedure. They cite as indications for biopsy: (1) suspected Hirschsprung's disease in the newborn infant, because the colon does not become dilated and hypertrophied until the intestinal tract has been functioning for several months; (2) symptoms of upper large bowel obstruction developing soon after birth, because barium enema studies of infants whose entire colons are aganglionic reveal no obstruction of the lumen of the large intestine; (3) radiologic evidence of dilatation of the entire distal segment of the colon, because, in patients with a short aganglionic lesion, the obstruction may be so low that the radiologist is unable to demonstrate a narrow segment extending through the rectosigmoid, and (4) atypical symptoms of megacolon, including diarrhea, episodes of intestinal obstruction, or other symptoms of colonic dysfunction. This procedure has been performed by Swenson and his colleagues on 40 patients. Biopsy specimens obtained from 19 patients, subsequently proved to have Hirschsprung's disease by study of the resected rectum and sigmoid, contained no ganglionic cells. In the other 21 patients, biopsy was performed because Hirschsprung's disease was suspected. Ganglionic cells were present in all of these specimens, and the success of subsequent conservative management of these patients confirmed the diagnosis of chronic constipation. Control material was obtained from 10 cadavers with normal colons, and ganglionic cells were found in all of these specimens. The authors emphasize that this technique is only as good as the specimen obtained. An adequate biopsy of rectal wall must be removed. Multiple histologic sections must be carefully examined before the diagnosis of Hirschsprung's disease is confirmed.

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Letters to the Editor

PEDIATRICS ◽

10.1542/peds.37.3.536 ◽

1966 ◽

Vol 37 (3) ◽

pp. 536-536

Author(s):

PETER K. KOTTMEIER

Keyword(s):

Barium Enema ◽

Chronic Constipation ◽

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy ◽

Letters To The Editor ◽

Rectal Examination ◽

Rectal Ampulla

Thank you for the Dr. John G. Loeffler's letter and for giving us the opportunity to write a rejoinder to his remarks which were certainly well taken. Dr. Loeffler's rejection of barium enema and rectal biopsy in a child of 2-3 years of age with chronic constipation and stool in the rectal ampulla appears to be justified. We did not emphasize the rectal examination and presence of stool in the ampulla, since in our experience stool can be found in the ampulla even in a patient with Hirschsprung's disease, especially with a low segment.

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A new instrument for suction rectal biopsy in the diagnosis of Hirschsprung's disease

Pediatric Surgery International ◽

10.1007/bf01194812 ◽

1997 ◽

Vol 12 (1) ◽

pp. 76-77 ◽

Cited By ~ 4

Author(s):

J. K. Freeman

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy ◽

Suction Rectal Biopsy ◽

New Instrument

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Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung's Disease in Neonates

European Journal of Pediatric Surgery ◽

10.1055/s-0038-1667040 ◽

2018 ◽

Vol 29 (05) ◽

pp. 425-430 ◽

Cited By ~ 4

Author(s):

Ashley Rebekah Allen ◽

Angelica R. Putnam ◽

Angela P. Presson ◽

Chelsea McCarty Allen ◽

Douglas C. Barnhart ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Age Groups ◽

Newborn Infants ◽

Rectal Biopsy ◽

Suction Rectal Biopsy ◽

Postmenstrual Age ◽

Pull Through ◽

One Year

Introduction Recent publications have questioned the sensitivity of suction rectal biopsy (SRB) for diagnosis of Hirschsprung's disease (HD) in newborns. A recent European survey reported that 39% of pediatric surgeons performed full-thickness transanal biopsies due to concerns about the accuracy of SRB. We sought to examine our contemporary SRB experience in infants. Materials and Methods A review was performed (2007–2016) of patients under 6 months of age who had a SRB at our children's hospital. The cohort was subdivided by postmenstrual age at time of SRB: preterm (< 40 weeks, A), term neonate (40–44 weeks, B), and infant (> 44 weeks, C). The pathology reports from endorectal pull-through were used as gold standard confirmation. One-year follow-up of patients with negative SRB was used to confirm accurate diagnosis. Results A total of 153 patients met the criteria and a total of 159 SRBs (< 2,500 g; n = 26) were performed (A = 60, B = 58, C = 35). Forty-three patients were diagnosed with HD (A = 25, B = 15, C = 3). A second SRB was performed in 6 (3.9%) patients due to inadequate tissue (A = 2, B = 2, C = 2) with HD diagnosed in 5. No complications occurred. Sensitivity and specificity of SRB was 100% in all age groups. Half of the patients with a negative SRB had at least 1 year follow-up, with none subsequently diagnosed with HD. Conclusion SRB results in adequate tissue for evaluation of HD in nearly all patients less than 6 months of age on the first attempt and is highly accurate in the preterm and newborn infants. No complications occurred, even among infants less than 2,500 g.

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