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Virtual Pediatric Hospital: Correlapaedia - a Correlative Encyclopedia of Pediatric Imaging, Surgery, and Pathology: Case 46

Correlapaedia - a Correlative Encyclopedia of Pediatric Imaging, Surgery, and Pathology

Case 46

Michael P. D'Alessandro, M.D.,
Steven J. Fishman, M.D.,
Deborah E. Schofield, M.D.

Peer Review Status: Internally Peer Reviewed
Chief Complaint:
Two day old full term male with abdominal distension.

Clinical History:
The patient was a 2 day old full term male with massive abdominal distension.

Clinical Physical Exam:
Distended abdomen

Clinical Labs:
Non-contributory

Clinical Differential Diagnosis:
Newborn with distal bowel obstruction and failure to pass meconium: meconium ileus, meconium plug, ileal atresia, Hirschsprung disease

Imaging Findings:
An abdominal film from the second day of life demonstrated a low bowel obstruction. An enema performed on the second day of life demonstrated a transition zone in the mid sigmoid colon.

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Imaging Differential Diagnosis:
Hirschsprung Disease

Operative Findings:
On the third day of life the patient went to the operating room and had a transanorectal biopsy which revealed prominent nerves and absent ganglion cells, findings suggestive of Hirschsprung Disease. Upon opening the abdomen through a low midline incision, a visible transition zone was seen in the mid sigmoid colon. The sigmoid colon was dilated and had ganglion cells on biopsy. The rectum was not dilated and had no ganglion cells on biopsy. A biopsy proximal to the transition zone was normal. A biopsy distal to the transition zone reveal absence of ganglion cells, consistent with Hirschsprung disease. A sigmoid colostomy was performed.

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Pathological Findings:
Examination of the surgical specimen revealed findings characteris tic of Hirschsprung Disease.

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Final Diagnosis:
Hirschsprung Disease (Low)

Follow-up and Prognosis:
The patient had an uncomplicated post-operative course. He was subsequently diagnosed with Down Syndrome. At 8 months of age the patient underwent a Soave endorectal pull-through in which the ganglionic bowel is brought down to the anus.

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Similar Cases:
Case 29, Case 48

References:

Title Page


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