2069007 Caudal Regression Syndrome: A Case Report and Review of Literature

Abstract

To report an interesting case of Caudal Regression Syndrome diagnosed intra-utero, to compare ultrasound and magnetic resonance findings and also to perform a brief literature review on this subject. This is a Case Report and Literature Review. 21 years-old female, primigravida with uncontrolled Class C diabetes was referred to to our Maternal Fetal Medicine Service for second trimester anatomy ultrasound. The scan detected a singleton pregnancy of 21 weeks and 3 days and estimated fetal weight of 433g. The fetus had bilateral clubfoot and reduced vertebrae number of the lower spine with a total of 3 lumbar and 2 sacral vertebras. The picture was suggestive of Caudal Regression Syndrome and Agenesis of lower spine. Patient was referred to a fetal MRI at 34 weeks and the findings were compatible with ultrasound ones. Patient was submitted to an elective cesarean section at term for maternal request. Computed tomography and spine x-ray of the neonate showed absence of lumbar vertebrae L4 and L5 and fusion of sacral vertebrae confirming the diagnosis of Caudal Regression Syndrome with Sacral Agenesis type 1. Caudal regression syndrome consists of a spectrum of structural defects of the caudal region, including incomplete development of the sacrum and sometimes of the lumbar vertebrae. This syndrome seems to occur with increased incidence in children of insulin-dependent diabetic mothers, although the mechanisms for this association are not clear. It also might be associated with genetic predisposition and vascular hypopefusion. The clinical presentation is highly variable, depending on the level of the spinal lesion. Affected infants may appear to have a small pelvis, neurogenic bladder, and variable degrees of limb deformity, depending on the level of the defect. Prenatal ultrasound is the standard for the diagnosis of fetal anomalies. However, fetal MRI has emerged as a valuable diagnosis tool to complete the study of fetal malformations. The approach of those cases should be multidisciplinar since treatment options are limited and the outcomes usually irreversible.