Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9

Abstract

ABSTRACT: Currarino syndrome is a rare set of congenital anomalies that include partial sacral agenesis, anorectal anomalies, presacral mass, urogenital malformation, and fistula between pelvic structures. We present a case of a 4-year and 10-month-old boy with incomplete Currarino syndrome, who was born with anus atresia, rectovesical fistula, and permanent perimembranous VSD. At the age of 3, he was diagnosed with neurogenic bladder and sacrococcygeal agenesis. Early psychomotor development was normal.Cytogenetic GTG-banding test confirmed a male karyotype 46, XY with high heterochromatin in chromosome 9, without mutation of the MNX 1 gene (chromosome 7q36). This genetic analysis is a result of ''de novo mutation'' or it is the disorder of DNA methylation.Further genetics analyses like whole-exome sequencing - WES should have been preformed if the test had been availble.The existence of Currarino syndrome should be suspected among the children born with anorectal malformation. Prompt diagnosis with multidisciplinary monitoring improves the care and quality of life of the patient, reduces morbidity and mortality.

Keywords

• Currarino syndrome
• Agenesis of sacrum
• Heterochromatin
• Chromosome 9
• Sequencing