Complete Currarino triad in all affected members of the same family.
Currarino triad is a rare hereditary disease. The complete form is characterized by the presence of an anorectal malformation, usually anorectal stenosis, a presacral mass and sacral bony defect. The main symptom is the presence of constipation since early life. In over 80 % of cases, the syndrome is diagnosed during the first decade of life. We report on three patients, members of the same family, with the complete form of the syndrome. The main symptom in our patients was intense constipation and the common clinical finding was an ectopic and stenotic anus. In two of them, father and son, the presacral masses were not diagnosed at the time of previous unsuccessful operations in another hospital for correction of the ectopic anus. In the third patient, Currarino syndrome was associated with Hirschsprung's disease. This has not been described previously. Two of the three patients who were admitted in our institution for simultaneous excision of the presacral mass and correction of the anorectal malformation through a posterior midsagittal coccygo-perineal approach, are free of symptoms. To the authors' knowledge, this is the second report of complete Currarino triad in all affected members of the same family.
Mavridis
G
G
2nd Department of Pediatric Surgery, Aghia Sophia Children's Hospital, Athens, Greece. mavridisg@hotmail.com
Livaditi
E
E
Soutis
M
M
Keramidas
D C
DC
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D002648:Child; D003251:Constriction, Pathologic; D005260:Female; D006222:Hamartoma / Q000151:congenital*; D006801:Humans; D008297:Male; D019683:Penetrance; D012007:Rectum / Q000002:abnormalities*; D012447:Sacrum / Q000002:abnormalities*; D013120:Spinal Cord Neoplasms / Q000151:congenital*; D013577:Syndrome; D013724:Teratoma / Q000151:congenital*