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Joseph Junewick, MD FACR
over 7 years ago
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Hirschprung Disease

Case Detail

Anatomy: Gastrointestinal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 5 years ago
Updated: over 5 years ago
Tags: PEDS
Modality/Study Types: CR FL
Activities:
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History

1 day old with trisomy 21 and emesis.


Case Images


Diagnosis

Hirschprung Disease

Clinical Notes

Pathology – No ganglion cells on rectal biopsies.

Findings

CR – Moderate diffuse dilation of bowel; no rectal air. Note the left colonic pneumatosis on the photographic magnification of the abdominal radiograph.

FL – Water-soluble contrast enema performed one week after the abdominal radiograph demonstrates transition zone in the sigmoid colon.

Discussion

Defective distal migration of vagal neural crest cells results in absent parasympathetic innervation (intramuscular Auerbach and submucosal Meissner plexi) and subsequent inability of bowel relaxation. This inability of relaxation creates a functional distal obstruction.

Short segment (distal to rectosigmoid junction) aganglionosis accounts 90% of Hirschprung disease and has a strong male predominance. Long segment disease occurs more often in caucasians although the male predominance is less. Hirschprung disease occurs in 2-16% of patients with trisomy 21; other syndromes with increased incidence of Hirschprung disease include Waardenburg, Goldberg-Shprintzen, Mckusick-Kauffman, Bardet-Biedl, Haddad, and Currarino.

The pneumatosis in this case is a manifestation of enterocolitis and represents a complication of Hirschprung disease. Enterocolitis is an important cause of comorbidity in Hirschprung disease and is related to stasis and bowel dilation, delayed diagnosis, and long segment disease.

Reference

Hernanz-Schulman M. The Colon – Normal Anatomy and Congenital Disorders, in Caffey’s Pediatric Diagnostic Imaging, 11th ed (2008).



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