Currarino Syndrome with Associated Uterine Malformation: A Case Report

Abstract

Currarino syndrome (CS), also known as the Currarino triad, is a rare congenital condition characterized by sacral agenesis, anorectal malformation, and a presacral mass. Most cases are diagnosed in childhood, although associations with Müllerian duct anomalies have been occasionally reported. We report a case of late diagnosis of Currarino syndrome revealed by an infectious complication of a presacral mass. The patient had undergone surgery for anal stenosis during infancy, without further evaluation for an underlying syndromic condition. In addition, this case was associated with a uterine malformation, further highlighting its diagnostic complexity.

Introduction

Currarino syndrome is a rare congenital disorder resulting from abnormal development of the caudal notochord during embryogenesis. It was first described by Currarino et al ¹ as a triad including anorectal malformation, sacral defect, and presacral mass. Early recognition is important to ensure appropriate management and prevent complications.

Müllerian duct anomalies are congenital abnormalities caused by defective development of the paramesonephric ducts, with an estimated prevalence of approximately 7% in the general population. ² Associations between Müllerian anomalies and Currarino syndrome, including uterine and vaginal duplication, have been reported. ³

We report the case of a 15-year-old girl with a history of anal stenosis surgery in infancy, presenting with a complete Currarino triad associated with a Müllerian anomaly.

Case Report

A 15-year-old girl presented with a 5-day history of fever and purulent rectal discharge. She reported chronic constipation since childhood. Her medical history included surgery for anal stenosis shortly after birth, although documentation was unavailable. There was no significant family history.

On examination, the patient was febrile but hemodynamically stable. Abdominal examination showed mild lower abdominal tenderness without palpable mass. No external fistula or anorectal malformation was identified. Neurological examination was normal. The lumbosacral skin was unremarkable, without signs of spinal dysraphism. Laboratory tests revealed leukocytosis and elevated C-reactive protein.

Abdominal ultrasound demonstrated a heterogeneous laterorectal mass with mixed echogenicity and internal vascularity on Doppler imaging. Pelvic MRI was performed for further evaluation. It revealed a right pararectal lesion in contact with the rectum, without invasion, associated with reactive rectal wall thickening. The lesion showed multilocular cystic components with high T2 signal and an enhancing solid component, along with surrounding fat infiltration, suggestive of a superinfected hamartoma (Figure 1).

Figure 1.

Pelvic MRI showing a right pararectal lesion (red arrow) containing multilocular cystic areas with high T2 signal intensity and a solid component demonstrating marked post-contrast enhancement (blue arrow). The lesion is associated with a well-defined cystic sac exhibiting cerebrospinal fluid (CSF)-like signal intensity, protruding through an anterior sacral defect between S3 and S4, consistent with an anterior meningocele (white arrow). Associated sacral anomalies include agenesis of the coccygeal vertebrae and the fifth sacral vertebra (S5; yellow arrow), consistent with Currarino syndrome.

Additionally, MRI identified a well-defined cystic lesion extending through an anterior sacral defect between S3 and S4, with cerebrospinal fluid (CSF)-like signal and no post-contrast enhancement, consistent with an anterior sacral meningocele. Associated agenesis of the coccyx and S5 vertebra was also noted (Figure 1). These findings were consistent with Currarino syndrome. MRI further demonstrated a bicornuate uterus with a duplicated cervix, consistent with a Müllerian duct anomaly (Figure 2).

Figure 2.

Pelvic MRI demonstrating duplication of the endometrial cavity with a heart-shaped fundus, separated by a myometrial septum (red arrow), consistent with a bicornuate uterus, and associated cervical duplication (blue arrows).

The patient received antibiotic therapy and was referred to a specialized center for multidisciplinary management, including planned surgical resection of the presacral mass and repair of the meningocele. Histopathological confirmation was not available, representing a limitation of this case, although imaging findings were suggestive of a hamartoma. In addition, no genetic testing was performed; therefore, analysis of MNX1 (HLXB9) mutations was not performed.

Discussion

Currarino syndrome is a rare autosomal dominant condition defined by the triad of anorectal malformation, sacral defect, and presacral mass. The presacral mass is most commonly an anterior sacral meningocele, followed by teratoma and other lesions. ⁴ Most reported cases are sporadic. ⁵ The female-to-male ratio has been estimated at approximately 3:1 in non-familial presentations, whereas familial forms exhibit an equal sex distribution.^6,7

In line with these observations, our patient had no relevant family history and presented with the complete triad. Notably, this case is distinguished by the presence of 2 concurrent presacral lesions: an anterior sacral meningocele and a presumed hamartoma.

Embryologically, the syndrome results from abnormal development of the caudal notochord and surrounding mesoderm, leading to incomplete separation between the endoderm and neuroectoderm. This mechanism explains the association of anorectal, sacral, and presacral abnormalities. ⁴

Cases of Currarino triad associated with Müllerian duct anomalies have been reported in up to 15% of patients. ³ This association may be explained by the common embryologic origin of the caudal notochord and adjacent mesodermal structures, whose abnormal development can disrupt the formation, migration, and fusion of the paramesonephric (Müllerian) ducts. ⁴ Our case further illustrates this association, as the patient presented with Currarino syndrome associated with a congenital uterine malformation, specifically a bicornuate uterus with cervical duplication.

Clinically, constipation is the most common symptom, as observed in our patient. ⁸ However, this case is unusual due to presentation with infection of the presacral mass.

This case also highlights the importance of evaluating children with anorectal malformations for associated syndromes. In our patient, early surgery for anal stenosis was performed without further investigation, leading to delayed diagnosis.

Radiological imaging, particularly MRI, plays a key role in the diagnosis of Currarino syndrome by enabling early detection and precise anatomical characterization of the presacral mass. It also allows accurate identification of anterior sacral defects and associated spinal canal anomalies.^7,9 MRI is therefore essential not only for evaluating the presacral lesion but also for excluding any communication with the spinal canal. In our case, MRI additionally revealed a uterine malformation. Furthermore, MRI is an excellent modality for assessing Müllerian duct anomalies, with a reported diagnostic accuracy close to 100%. ²

Management depends on the clinical presentation. Surgical intervention is often required early in life to correct anorectal malformations; however, conservative management may be considered in mild or well-tolerated cases.^7,10 Presacral masses are most commonly treated surgically to prevent complications such as infection or malignant transformation. ¹¹

Conclusion

Currarino syndrome should be considered in patients with anorectal malformations. In females, associated Müllerian anomalies should be actively investigated. MRI is essential for diagnosis and evaluation, and early multidisciplinary management improves outcomes.