Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

Abstract

Background Currarino syndrome is a rare congenital malformation having autosomal dominant inheritance. It comprises of anorectal malformation, presacral mass, and sacral vertebral defect occurring in variable proportion. The most common presentation is chronic constipation which is usually due to compression of rectum by anterior sacral mass. If clinical examination is not properly done and digital rectal examination is excluded from the examination, it can be misdiagnosed as other common cause of constipation like Hirschsprung disease. Case presentation We are reporting one such case of one-and-half-year-old female child with chronic constipation which was initially managed as Hirschsprung disease, but later on, after a repeat clinical examination with digital rectal examination, it was evaluated on the line of Currarino syndrome. The diagnosis was confirmed by contrast-enhanced computed tomography of abdomen with 3 dimensional reconstruction. It was then managed by posterior sagittal approach with excision of mass and anorectoplasty. Conclusion A proper protocol for clinical evaluation of patient with constipation prevents diagnostic dilemma between surgical causes of constipation in pediatric age group. Digital rectal examination must be included in the protocol for evaluation of chronic constipation. In pediatric age group, clinical workup should be done with keeping in mind the rare diagnosis of Currarino syndrome along with common cause of constipation like Hirschsprung disease.