Currarino syndrome

Genetics

The disorder is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis. The study was published in the American Journal of Human Genetics.

Diagnosis

Diagnosis of Currarino syndrome is usually clinical, detecting all three elements of the triad. However, genetic testing is often used as the confirmation of diagnosis and genetic analysis of patient's family members.

Treatment

Surgery of an anterior myelomeningocele is only indicated in the rare case in which the space-occupying aspect is expected to cause constipation or problems during pregnancy or delivery. Fistulas between the spinal canal and colon have to be operated on directly.

Early diagnosis and multidisciplinary assessment is recommended to plan adequate treatment.

By accurate evaluation, the correct surgical management, including neurosurgery, can be performed in a single-stage approach.

The management of Currarino syndrome is similar to the usual management of anorectal malformation (ARM) regarding the surgical approach and probably the prognosis, which mainly depends on degree of associated sacral dysplasia.

References

• currarino_syndrome_treatment [Operative Neurosurgery]

References

1. Weber, Stefanie. (2014). "German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings". Orphanet Journal of Rare Diseases.
2. Emans, Pieter J.. (2006-05-01). "The Currarino Triad: Neurosurgical Considerations". Neurosurgery.
3. Samuel, M.. (December 2000). "Currarino triad—Diagnostic dilemma and a combined surgical approach". Journal of Pediatric Surgery.
4. (June 2007). "Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!". Eur J Pediatr Surg.
5. Ashcraft KW. (October 1974). "Hereditary presacral teratoma". J. Pediatr. Surg..
6. Belloni, E. (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome.". American Journal of Human Genetics.
7. AbouZeid, Amr Abdelhamid. (August 2017). "The Currarino triad: What pediatric surgeons need to know". Journal of Pediatric Surgery.
8. Garcia-Barceló, Mercè. (2006-01-01). "Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome". Clinical Chemistry.
9. Emans PJ, van Aalst J, van Heurn EL, Marcelis C, Kootstra G, Beets-Tan RG, Vles JS, Beuls EA. (2006). "The Currarino triad: neurosurgical considerations". Neurosurgery.
10. Samuel M, Hosie G, Holmes K. (Dec 2000). "Currarino triad--diagnostic dilemma and a combined surgical approach". J Pediatr Surg.
11. Crétolle C, Zérah M, Jaubert F, Sarnacki S, Révillon Y, Lyonnet S, Nihoul-Fékété C. (2006). "New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)". J Pediatr Surg.
12. AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MME, Hassan TA. (2017). "The Currarino triad: What pediatric surgeons need to know". J Pediatr Surg.