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Related Experiment Videos

Is it more than just constipation?

Rani S Gereige1, Jaime L Frias

  • 1University of South Florida, Department of Pediatrics, All Children's Hospital, St Petersburg, FL 33701, USA.

Pediatrics
|May 3, 2002
PubMed
Summary
This summary is machine-generated.

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Constipation in an infant led to the diagnosis of Currarino triad. This rare genetic disorder was identified in the infant and two other family members through careful examination.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Currarino triad is a rare autosomal dominant disorder.
  • It is characterized by the association of a congenital anteriorly displaced anus, sacral bony defects, and a presacral mass.
  • Early diagnosis is crucial for managing associated complications.

Observation:

  • An infant presented with persistent constipation, prompting a medical investigation.
  • Detailed patient history and physical examination were key to suspecting a rare genetic condition.
  • The initial presentation of constipation served as a critical diagnostic clue.

Findings:

  • The investigation confirmed the diagnosis of Currarino triad in the infant (proband).
  • Genetic analysis and further clinical evaluation identified the condition in two additional family members.

Related Experiment Videos

  • This highlights the hereditary nature of Currarino triad.

    • Implications:

    • Early identification of Currarino triad enables timely intervention and management.
    • Screening family members of affected individuals is essential for early diagnosis and treatment.
    • Understanding the presentation in infants can improve diagnostic pathways for this rare syndrome.