Hirschsprung Disease: When Bad Things Happen to the Gut Brain

This lecture offers the following credit types: CME, P.A.C.E.®, Florida
 

Interpretation of diagnostic biopsies for evaluation of Hirschsprung disease may be challenging, especially if infrequently encountered by an adult surgical pathology group. This presentation describes an approach to evaluation of both diagnostic biopsies, frozen sections, and resection specimens, how to interpret ancillary studies, and best approach to clinical-histologic discrepancies. This presentation will also briefly describe rare differential diagnostic considerations.

Originally published on December 2, 2025

Lecture Presenter

Angelica Putnam, MD

Angelica Putnam, MD

Professor (Clinical)
University of Utah School of Medicine
Pediatric Pathologist
ARUP Laboratories

Dr. Putnam is a professor (clinical) in the Division of Pediatric Pathology, located at Primary Children's Hospital. She serves as director of undergraduate Medical Education for the Department of Pathology and director of the Anatomic Pathology Quality Assurance/Improvement Program for the Division of Pediatric Pathology.

Her interests include pediatric vascular lesions, soft tissue tumors, and sarcomas. She devotes most of her time to surgical pathology, teaching, developing undergraduate medical education curriculum, and authoring the medical textbooks Diagnostic Pathology: Non-Neoplastic Pediatric and Diagnostic Pathology: Pediatric Neoplasms with Elsevier.

Dr. Putnam received her medical degree, completed residency training in anatomic and clinical pathology and fellowship training in pediatric pathology, all at the University of Utah School of Medicine. An additional fellowship in general surgical pathology was completed at the University of Colorado at Denver and Health Sciences Center. She is board certified in anatomic, clinical, and pediatric pathology.

Dr. Putnam is a member of several professional societies, including the College of American Pathologists, Society of Pediatric Pathology, Association of Pathology Chairs, and the International Association of Medical Science Educators. Her primary research interest is in pathology education.

Objectives

After this presentation, participants will be able to:

  • Explain how neural crest cells, the enteric nervous system, and the RET gene factor in the development of Hirschsprung disease
  • Describe the classic clinical symptoms of Hirschsprung disease, the different presenting age groups, and common associated syndromes
  • Define biopsy adequacy and describe histologic findings in the diagnosis of Hirschsprung disease
  • Illustrate the role of frozen section diagnosis during resection of diseased bowel
  • Describe the best approach for evaluation of possible transition pull-through in post-operative symptomatic patients

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories