Complete currarino syndrome recognized in adulthood

Area of Science:

• Medical Genetics
• Radiology
• Pediatric Surgery

Background:

• Currarino syndrome is an inherited disorder with a characteristic triad of sacrococcygeal bone defect, presacral mass, and anorectal malformation.
• The sacrococcygeal bone defect is a near-universal feature, while the complete syndrome encompassing all three components is rare.

Observation:

• This report details a case of the complete form of Currarino syndrome.
• The diagnosis was established in an adult patient, which is uncommon for this condition.

Findings:

• Magnetic resonance imaging (MRI) was instrumental in identifying the characteristic features of Currarino syndrome.
• The imaging findings confirmed the presence of all three components of the complete syndrome in an adult.

Implications:

• This case expands the understanding of Currarino syndrome's presentation in adulthood.
• Highlighting the utility of advanced imaging like MRI in diagnosing rare congenital disorders in adult populations.
• Emphasizes the importance of recognizing rare genetic syndromes even when they manifest later in life.