THE CURRARINO-SYNDROME - HEREDITARY TRANSMITTED SYNDROME OF ANORECTAL, SACRAL AND PRESACRAL ANOMALIES - CASE-REPORT AND REVIEW OF THE LITERATURE

The Currarino triad is a hereditary transmitted syndrome, originally d efined by Currarino as ASP-association, consisting of an anorectal mal formation, a sacral bony defect and a presacral mass. In most cases au tosomal dominant transmission is suggested. In family members one or t wo features of the syndrome mag be missing, indicating an incomplete f orm of this complex. We describe two unrelated girls at the age of 8 a nd 9 months respectively with ASP-association. Family screening in bot h patients showed 8 additional cases with a complete or incomplete Cur rarino triad, four of them being asymptomatic. A review of the literat ure up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this com plex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. M ost frequently the presacral mass in ASP-association was reported to b e an anterior meningocele (47 %) and a benign teratoma (40 %). The num ber of patients with Currarino syndrome has been underestimated so far . We recommend anorectal examination, pelvic ultrasound and pelvic x-r ays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations su ch as barium enema, MRI, myelography and family screening. Close coope ration between pediatric surgeons and neurosurgeons is required to ens ure adequate surgical treatment, considering both the risk. of maligna nt degeneration as well as the risk of intraoperative nerve damage. Th us, radical excisional surgery is not obligatory in every case of Curr arino syndrome.