The Currarino Syndrome - Hereditary Transmitted Syndrome of Anorectal, Sacral and Presacral Anomalies. Case Report and Review of the Literature

Abstract

The Currarino triad is a hereditary transmitted syndrome, originally defined by Currarino as ASP-association, consisting of an anorectal malformation, a sacral bony defect and a presacral mass. In most cases autosomal dominant transmission is suggested. In family members one or two features of the syndrome may be missing, indicating an incomplete form of this complex. We describe two unrelated girls at the age of 8 and 9 months respectively with ASP-association. Family screening in both patients showed 8 additional cases with a complete or incomplete Currarino triad, four of them being asymptomatic. A review of the literature up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this complex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). The number of patients with Currarino syndrome has been underestimated so far. We recommend anorectal examination, pelvic ultrasound and pelvic x-rays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations such as barium enema, MRI, myelography and family screening. Close cooperation between pediatric surgeons and neurosurgeons is required to ensure adequate surgical treatment, considering both the risk of malignant degeneration as well as the risk of intraoperative nerve damage. Thus, radical excisional surgery is not obligatory in every case of Currarino syndrome.

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

“…We suggest that the higher CS female detection rate, previously underlined by several authors, may be a clinical bias of observation, thanks to routine gynecological examinations or during delivery complications [Kochling et al, 1996].…”

“…It is striking that 14 different missense mutations among the 17 reported to date, are located within the HB9 protein homeobox Kochling et al [1996; (aa 243-302). Such mutations within the HLXB9 homeobox may alter the DNA binding specificity or reduce nuclear translocation of the mutated protein.…”

“…These sites share a common embryological origin in the tail bud. So far, more than 300 CS cases have been reported in the literature, and additional associated malformations have been described, namely: neural tube defects (tethered cord, intra-and/or extraspinal lipoma, syringomyelia, and hydromyelia), renal or ureteral duplications, hydronephrosis, horseshoe kidney, vesicoureteral reflux, neurogenic bladder, and bicornuate uterus [De Lagausie et al, 1991;Kochling et al, 1996;Lee et al, 1997;Gegg et al, 1999;Belloni et al, 2000;Ilhan et al, 2000;Gereige and Frias, 2002;MarinSanabria et al, 2005]. Presacral mass may result in severe complications such as presacral abscess or meningitis due to communication between the presacral mass and the spinal canal.…”

Surgical Strategy for Anterior Sacral Meningocele-Two Case Reports-

“…Thirteen of these cases had abnormal filum terminale 3,14,16,21,[25][26][27][28]36) and the others had no or only non-contributory caudal spinal cord anomaly. [5][6][7]10,11,14,15,17,19,20,22,23,[30][31][32]34) One case showed neurological manifestations. 5) Nine cases with associated presacral mass (8 teratomas, 1 dermoid tumor) were surgically treated through the posterior or anterior approach.…”

“…5) Nine cases with associated presacral mass (8 teratomas, 1 dermoid tumor) were surgically treated through the posterior or anterior approach. 3,7,11,[20][21][22]26,28) Neurosurgeons should consider the presence of thickened filum terminale or other neurological complications before and during surgery to treat this ASM. However, no unified surgical strategy has been established in the pediatric surgical field or the gynecological field.…”