FaCD Online Syndrome Fact Sheet

Last updated: 22 Jun 2010

Name: Currarino syndrome

Synonym: Currarino Triad, Sacral Agenesis syndrome, incl.: Hereditary Presacral Teratoma, Presacral Teratoma with Sacral Dysgenesis,

Mode of Inheritance: AD

Genes

HLXB9/MNX1, mapped to 7q36

Tumor features

presacral lipoma
presacral teratoma

Non-tumor features

anorectal stenosis
Hirschsprung disease
meningocele
presacral cyst
sacrococcygeal bony defects
vertebral anomalies

Comment

This familial disorder is characterized by the association of sacrococcygeal bony defects, (anterior) meningoceles (50%) and a presacral masses (42% mainly teratomas, lipomas and cysts) [1-6,10]. Prolonged constipation may be the only presentation in this syndrome. Associated findings include anorectal stenosis, occasionally Hirschsprung's disease[8] and vesicoureteral reflux. The risk of malignant transformation of the presacral teratomas appears to be lower than the 1% risk of malignant change in sacrococcygeal teratomas. In rare cases a neuroendocrine carcinoma arises in the teratoma of Currarino syndrome patients[11]. Malignant transformation has been diagnosed in children as well as in adults with the syndrome[12]. Leiomyomatosis peritonealis disseminata was reported in a patient with Currarino syndrome[9]. In general, a high frequency of children with sacrococcygeal teratomas have congenital anomalies of the lower vertebrae, genitourinary system and anorectum[7].
Germline mutations in the HLXB9 gene have been detected in almost 50% of patients with Currarino syndrome, 90% in familial cases[6,13].

References

[1] Yates VD, Wilroy RS, Whitington GL, Simmons JCH. Anterior sacral defects: an autosomal dominantly inherited condition. J Pediat 1983; 102:239-242.
[2] Ashcraft KW, Holder TM. Hereditary presacral teratoma. J Pediatr Surg 1974; 9(5):691-697.
[3] Durkin-Stamm MV, Gilbert EF, Ganick DJ, Opitz JM. An unusual dysplasia-malformation-cancer syndrome in two patients. Am J Med Genet 1978; 1:279-289.
[4] Gegg CA, Vollmer DG, Tullous MW, Kagan Hallet KS. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications. Neurosurgery 1999; 44(3):658-662.
[5] Iinuma Y, Iwafuchi M, Uchiyama M, Yagi M, Kondoh K, Ohtani S, Kanada S, Mishina T, Saitoh H, Suzuki N. A case of Currarino triad with familial sacral bony deformities. Pediatr Surg Int 2000; 16(1-2):134-135.
[6] Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000; 37:561-566.
[7] Fraumeni jr JF, Li FP, Dalager N. Teratomas in children: epidemiologic features. J Natl Cancer Inst 1973; 51(5):1425-1430.
[8] Kilickesmez O, Gol IH, Uzun M, Oruk C. Complete familial Currarino triad in association with Hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations. Acta radiologica (Stockholm, Sweden : 1987) 2006; 47(4):422-6.
[9] Nappi C, Di Spiezio Sardo A, Mandato VD, Bifulco G, Merello E, Savanelli A, Mignogna C, Capra V, Guida M. Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?. BMC cancer 2006; 6():127.
[10] Urioste M, Garcia-Andrade Mdel C, Valle L, Robledo M, González-Palacios F, Méndez R, Ferreirós J, Nuño J, Benítez J. Malignant degeneration of presacral teratoma in the Currarino anomaly. American journal of medical genetics. Part A 2004; 128(3):299-304.
[11] Pendlimari R, Leonard D, Dozois EJ.Rare malignant neuroendocrine transformation of a presacral teratoma in patient with currarino syndrome. Int J Colorectal Dis. 2010 Jun 8. [Epub ahead of print]
[12] Yoshida A, Maoate K, Blakelock R, Robertson S, Beasley S. Long-term functional outcomes in children with Currarino syndrome. Pediatr Surg Int. 2010 Jul;26(7):677-81.
[13] Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat. 2008 Jul;29(7):903-10.