Rectal Biopsy | ScienceGate

AbstractWe present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.

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Autopsy Study of Calretinin Immunohistochemistry in the Anorectal Canal in Young Infants and Potential Implications for Rectal Biopsy Approach in the Neonatal Period

Pediatric and Developmental Pathology ◽

10.1177/10935266211030172 ◽

2021 ◽

pp. 109352662110301

Author(s):

Heather Rytting ◽

Zachary J Dureau ◽

Jose Velazquez Vega ◽

Beverly B Rogers ◽

Hong Yin

Keyword(s):

Neonatal Period ◽

Ganglion Cells ◽

Hirschsprung Disease ◽

Rectal Biopsy ◽

Autopsy Study ◽

Pathologic Diagnosis ◽

Young Infants ◽

Autopsy Specimens ◽

Pectinate Line ◽

Age Range

Background Absent submucosal ganglion cells in biopsies 1-3 cm above the pectinate line establishes the pathologic diagnosis of Hirschsprung Disease (HD). Calretinin stains both ganglion cells and their mucosal neurites and has gained importance in HD diagnosis. Absent calretinin positive mucosal neurites in biopsies at the appropriate level above the pectinate line is highly specific for HD. Whether this applies to lower biopsies is uncertain. To address this, we studied anorectal canal autopsy specimens from infants. Methods We performed an autopsy study of infant anorectal canal specimens to describe calretinin staining in this region. Calretinin staining was correlated with histologic and gross landmarks. Results In all 15 non-HD specimens, calretinin positive mucosal neurites were present in glandular mucosa up to the anorectal line where neurites rapidly diminished. Age range was preterm 26 weeks to 3 months. Conclusions Calretinin positive mucosal neurites are present in glandular mucosa up to the anorectal line in young infants. This is potentially important regarding neonatal HD biopsy level and diagnosis. Positive calretinin staining at the anorectal line favors normal innervation making HD unlikely. Absent calretinin positive neurites in glandular mucosa is worrisome for HD in young infants, regardless of location.

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Rectal Biopsy for Hirschsprung's Disease – Are We Performing too Many?

European Journal of Pediatric Surgery ◽

10.1055/s-0029-1241820 ◽

2010 ◽

Vol 20 (02) ◽

pp. 95-97 ◽

Cited By ~ 15

Author(s):

N. Rahman ◽

J. Chouhan ◽

S. Gould ◽

Vt. Joseph ◽

H. Grant ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy

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Rectal Biopsy in Patients With Crohn's Disease

JAMA ◽

10.1001/jama.1977.03270520052023 ◽

1977 ◽

Vol 237 (25) ◽

pp. 2742 ◽

Cited By ~ 46

Author(s):

Burton I. Korelitz

Keyword(s):

Crohn’S Disease ◽

Crohn's Disease ◽

Rectal Biopsy

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Idiopathic megacolon and megarectum in an adult treated with laparoscopic modified Duhamel procedure

BMJ Case Reports ◽

10.1136/bcr-2020-240209 ◽

2021 ◽

Vol 14 (6) ◽

pp. e240209

Author(s):

Maureen Elvira Padernal Villanueva ◽

Marc Paul Jose Lopez ◽

Mark Augustine S Onglao

Keyword(s):

Emergency Department ◽

Chronic Constipation ◽

Ganglion Cells ◽

Rectal Biopsy ◽

Full Thickness ◽

Postoperative Course ◽

Idiopathic Megacolon ◽

Duhamel Procedure ◽

Idiopathic Megarectum ◽

Sigmoid Loop Colostomy

Idiopathic megacolon (IMC) and idiopathic megarectum (IMR) describe an abnormality of the colon or rectum, characterised by a permanent dilatation of the bowel diameter in the absence of an identifiable cause. We present a 23-year-old woman with chronic constipation and excessive straining during defecation who presented at the emergency department in partial gut obstruction with a palpable fecaloma. Manual faecal disimpaction and a sigmoid loop colostomy was initially done. A full thickness rectal biopsy was positive for ganglion cells. Further workup led to the diagnosis of chronic IMC and IMR. The patient underwent laparoscopic modified Duhamel procedure, with an uneventful postoperative course.

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