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Complete Currarino triad presenting with diarrhea in a 7-month-old girl

William B Horton1, Michael A Steiner, Majid A Khan

  • 1Department of Radiology, University of Mississippi, Jackson, MS, USA.

Southern Medical Journal
|July 13, 2010
PubMed

Insights

Currarino triad, a rare genetic disorder, involves sacral defects, presacral masses, and anorectal malformations. This case highlights an unusual diarrhea presentation in a child with complete Currarino triad.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Developmental Biology

Background:

  • Currarino triad is a rare genetic disorder defined by sacral bony defects, presacral masses, and anorectal malformations.
  • First described in 1981, it typically presents with constipation and specific radiological findings.
  • Early diagnosis is crucial for improving patient outcomes and quality of life.

Observation:

  • This report details a 7-month-old female with a complete Currarino triad.
  • The patient presented atypically with diarrhea, contrasting with the typical constipation associated with the condition.

Findings:

  • The diagnostic workup revealed an imperforate anus with a rectoperianal fistula.
  • Additional findings included a presacral lipomyelomeningocele and sacral hypoplasia, confirming the complete triad.

Implications:

  • This case underscores the importance of considering atypical presentations in diagnosing rare genetic disorders.
  • Early and accurate diagnosis of Currarino triad is crucial for timely intervention and improved patient outcomes.

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