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Currarino Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Currarino syndrome (or Currarino triad) is a rare autosomal dominant disorder defined by the classical triad of anorectal malformation (imperforate anus 52%, anorectal stenosis 48%), sacral anomaly (hemisacrum 68%, partial sacral agenesis 16%), and presacral mass (anterior sacral meningocele 60%, presacral teratoma 25%, presacral lipoma and other tumors/cysts 15%), leading to severe and intractable constipation (in 95% of cases) and urinary incontinence.
Presacral resections - Kraske
Published in P Ronan O’Connell, Robert D Madoff, Stanley M Goldberg, Michael J Solomon, Norman S Williams, Operative Surgery of the Colon, Rectum and Anus Operative Surgery of the Colon, Rectum and Anus, 2015
Congenital presacral tumors, especially the cystic ones, are most common in females. The Currarino syndrome is an inherited autosomal dominant condition in which partial sacral agenesis is associated with a presacral teratoma or anterior meningocele and anorectal malformation. It is caused by a mutation in the HLXB9 homeobox gene.
Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report
Published in British Journal of Neurosurgery, 2019
Francesca Colombo, Petr Janous, Neil Buxton
The Currarino syndrome is an autosomal dominant congenital disorder characterized by the coexistence of partial sacral agenesis, anorectal malformation and a presacral mass (more commonly meningocele, teratoma or dermoid cyst). It was illustrated for the first time by Currarino in 1981, and mutations in the gene HLXB9 are considered responsible for the syndrome in the majority of cases. Clinical manifestations are variable and there is not a clear genotype-phenotype correspondence, therefore not all the elements of the triad need to be present for diagnostic purposes. Due to this variability, the actual incidence of the disease may be underestimated. So far, about 300 cases have been described in the literature.1
Congenital Spinal Lipomatous Malformations. Part 2. Differentiation from Selected Closed Spinal Malformations
Published in Fetal and Pediatric Pathology, 2021
A medullary spinal cord may present with the tethered spinal cord syndrome that classically includes back pain, leg pain, lower extremity weakness, and urological symptoms [15, 16]. Intradural sacral spinal lipomas have been identified causing tethering of retained medullary cords. Other associated lesions include meningoceles, a lumbar nonterminal myelocystocele, diastematomyelia (a closed neural tube defect), an arteriovenous vascular malformation within the medullary cord, and the Currarino syndrome [11, 12].