Revista Paulista de Pediatria
versão impressa ISSN 0103-0582
ZEN, Paulo Ricardo G. et al. Imperforate anus associated with partial sacral agenesis and presacral lipoma: Currarino syndrome. Rev. paul. pediatr. [online]. 2010, vol.28, n.3, pp. 376-380. ISSN 0103-0582. http://dx.doi.org/10.1590/S0103-05822010000300019.
OBJECTIVE: To report a patient with Currarino syndrome diagnosed after evaluation for recurrent urinary infections. CASE DESCRIPTION: This is a Caucasian two-year-old girl, the only daughter of healthy unrelated parents with no family history of congenital defects. The patient was born with imperforate anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.
Palavras-chave : anus, imperforate; lipoma; sacrum; spinal cord diseases; genetics.