The Currarino syndrome: two case reports
Di Meglio, D.; Capobianco, A.; Tramontano, A.; Gaglione, G.; Saggiomo, G.
Minerva Pediatrica 57(3): 147-152
2005
ISSN/ISBN: 0026-4946 PMID: 16170300 Document Number: 590039
The association of congenital anal stenosis, or other anal and rectal malformation, sacral defect and a presacral mass is known as the Currarino syndrome described for the first time in 1981. Currarino et al. proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life may result in a fistula between the gut and the spinal canal with enteric elements ventrally and neural elements dorsally. This abnormality appears to be a variant of the split notochord syndrome. The occurrence of Currarino's triad of anomalies is familial in more than 50% of cases. The most important suggested hypothesis of transmission is an X-linked dominant pattern, but most of the other reports are consistent with an autosomal dominant mode of inheritance. The medical therapy is poorly successful and, therefore, the surgical treatment is recommended for Currarino's syndrome.