Variants of Currarino Syndrome: Embryological Association and Review of Pertinent Literature

Currarino syndrome is a triad of sacral defect, anorectal malformation and a presacral mass. The diagnosis is usually made late in childhood and about 50% of cases are familial with autosomal dominant inheritance. We present two neonates (one with vestibular fistula, and another with cloacal malformation) with the features consistent with Currarino syndrome, but with Altman’s type II sacrococcygeal teratoma, that is, presacral mass having an external sacrococcygeal component also. We believe that this triad should be considered a variant of Currarino syndrome. In first case, excision of the mass along with coccyx, followed by primary Posterior Sagittal AnoRectoPlasty was performed in the same setting. The patient succumbed to death due to septicemia as a result of wound sepsis. Learning from the previous experience, we decided to do a diverting sigmoid loop colostomy followed by posterior sagittal excision of the mass along with coccyx, in same sitting in the second case. There was no recurrence. Though HLXB9 has been identified as the major causative gene in Currarino syndrome, exact pathogenesis is still unclear. We herein highlight the significance of this variant of Currarino syndrome and propose a theory on the basis of an embryological association between the malformation complex. 1. Introduction The Currarino syndrome refers to a specific neurenteric malformation complex characterized by three main features, anorectal malformation (ARM), sacral defect, and a presacral mass, which may be an anterior sacral meningocele/teratoma/an enteric cyst or a combination of these [1]. ARM is usually of the low type. The condition is rare with approximately 200 cases reported in the literature. The triad was first described by Kennedy in 1926 [2]. Guido Currarino recognized these disorders as a syndrome and postulated the embryogenesis of the triad in 1981 [1]. About 50% of cases are familial with autosomal dominant inheritance. It is characterized by a partial agenesis of the sacrum (hemisacrum) typically involving sacral vertebrae S2–S5 only [3]. First sacral vertebra is always preserved [1]. We present two neonates, first with vestibular fistula and second with cloacal malformation with Altman’s type II sacrococcygeal teratoma and partial sacral agenesis. 2. Case 1 A 2-day-old female baby was presented to us with absence of anal opening. Her birth weight was 2.7？kg. On examination, there was vestibular fistula (Figure 1(a)) and a sacrococcygeal swelling about 4 × 2.5？cm in size (Figures 1(b) and 1(c)). Figure 1: Preoperative photographs of a 2-day-old