An eighteen month old infant presents with difficulty passing stools. A grandfather and cousin reportedly required some type of bowel surgery in childhood. Digital rectal exam shows a somewhat narrowed but normally positioned anus. A computerized tomography scan is obtained that identifies a presacral mass. The next step in management in this patient with constipation is

 

 

[size=20px]A serum alpha fetoprotein

 

B barium enema

 

C magnetic resonance imaging of the spine

 

D suction rectal biopsy

 

E colonoscopy​​[/size]

A

A

A

C

Enema de bario

correct answer

A serum alpha fetoprotein

 

The computerized tomography scan demonstrates a presacral mass in a child with an anal stenosis and a positive family history of possible rectal problems. The differential diagnosis of a presacral mass includes sacrococcygeal teratoma, anterior myelomeningocele and neurenteric cyst. This presentation is strongly suggestive of the triad of anal stenosis, presacral teratoma and sacral bony abnormalities. Although initially described by Holder and Ashcraft in 1974 it is commonly referred to as the Currarino triad. The condition is autosomal dominant and most cases are identified because of stooling problems or bladder dysfunction. Alternatively, they may be discovered by virtue of being a relative of an index case.

 

In the question presented, barium enema or suction rectal biopsy would be indicated if Hirschsprung disease was suspected but the presacral mass makes that diagnosis unlikely. Magnetic resonance imaging of the spine might rule out neurenteric abnormalities but the presence of anal stenosis and a positive family history make sacrococcygel teratoma a more likely consideration and tumor markers such as alpha fetoprotein should be obtained. Colonoscopy would not be useful in this child.

 

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