Childs Nerv Syst. 2025 Sep 11;41(1):276. doi: 10.1007/s00381-025-06911-4.
ABSTRACT
INTRODUCTION: Currarino syndrome is an autosomal dominant disorder with variable phenotypic expression with the classical triad of sacral dysgenesis, anorectal malformation and pre-sacral mass. Cases are often associated with neural tube defects and urogenital abnormalities and require surgical correction. Mutations of MNX1 gene located at 7q36.3 have been identified as causal, although they are not detected in every case of Currarino syndrome.
METHODS: We describe a case of partial Currarino syndrome with a naked sacrococcygeal teratoma (without skin covered surface) and propose an embryological mechanism for the observed presentation. We also review the literature for reported cases of Currarino syndrome in the pediatric population and discuss the clinical presentation, diagnosis and management.
RESULTS: We identified 344 patients in 112 reports with patient level data and 2 case series with summary data. The most common age group affected was 1-5 years with teratoma being the most common type of pre-sacral tumor. We also quantify that presence of fistula in the anorectal malformation is a significant risk factor for infectious complications like meningitis/pelvic abscess. Further, we propose that incomplete ingression of the primitive streak is the likely embryological mechanism of the present case.
CONCLUSION: Currarino syndrome remains an enigmatic anomaly that requires multidisciplinary involvement for successful management. We suggest urgency in surgical management of anorectal malformations with fistulas as they have a significantly increased risk of infectious complications. We also propose that abnormalities of secondary neurulation can occasionally cause “open” defects.
PMID:40936035 | DOI:10.1007/s00381-025-06911-4
