Analysis of Caudal Regression Syndrome: A Case Report From Bulgaria

Abstract

A rare congenital condition known as caudal regression syndrome (CRS) or caudal dysplasia sequence (CDS) is defined by deformity of the caudal (lower) half of the body, which can have different effects on skeletal, neurological, gastrointestinal, and genitourinary systems. A 19-year-old G1P0 woman presented for a fetal anomaly scan at 27+6 weeks of gestation due to suspected oligohydramnios. The patient reported a history of maternal diabetes type 1 on insulin for the past 10 years. She presented with severe generalized edema and hypertension that was not reported till the first appointment with us with a blood pressure of 160/90 mmHg. Despite the current situation, the patient was also a severe smoker during pregnancy, with up to 15 cigarettes per day. In her recent blood glucose level diary, she noted poor diabetes control, with glucose levels in the range of 22 to 26 mmol/L. In the following report, we demonstrate that prenatal ultrasonography can detect this rare but important anomaly. Additionally, this case study highlights the significance of conducting a thorough ultrasonographic evaluation in mid-gestation to effectively manage pregnancies impacted by insulin-dependent diabetes mellitus.

Keywords: congenital abnormalities; diabetes mellitus management; prenatal diagnosis; rare diseases; regression caudal syndrome.

Figure 1. Enlarged intestinal loops with hyper echogenic bowels and suspected anorectal atresia at 27+6 gestational weeks

Figure 2. Right-sided kyphoscoliosis in the lumbar part at 27+6 gestational weeks