Caudal Regression Syndrome
DOI :
https://doi.org/10.18041/2390-0512/biociencias.1.11512Mots-clés :
Caudal Regression Syndrome, Caudal Agenesis, Sacral regressionRésumé
Background: Caudal Regression Syndrome is an infrequent congenital malformation of the vertebral spine’s lower segments characterized by a truncated medullar cone and aplasia or hypoplasia of the sacrum. Specifically, sacral agenesis represents an incidence of 0.01 to 0.05 of every newborn. Among the main risk factors are elevated glycosylated hemoglobin, hormonal imbalance, and lipid protein metabolic disorder. A correlation has been established between anomalous pregnancies and congenital malformations in newborns, with a prevalence of 5 to 10% in children of diabetic mothers, with an incidence of 1 per 350 cases, representing a 200% rise over the general population. Objective: To report an extremely uncommon epidemiologically rare case of Caudal Regression Syndrome, characterized by caudal musculoskeletal involvement. Clinical case: a 27-year-old female in her 34th week of gestation during her second pregnancy presented to the high specialty, high-risk pregnancy consultation with a background of glycemia of 205mg/dl, glycosylated hemoglobin percentage (%HbA1c) of 10.1%, and estimated average glucose levels of 243mg/dl. The patient arrived at the emergency room during active labor with premature membrane rupture, both deciding factors for pregnancy termination. The outcome was a sole female live product with a vertebral spine interrupted approximately by T10, non-palpable iliac crests, sacrum, and coccyx, and shortening of hypotrophied inferior extremities. Conclusion: successful prevention in the early diagnosis of malformations during pregnancy requires strict prenatal control for any pregnant woman with metabolic risk factors. The first prenatal consultation presents an opportunity to perform diabetic screening. If diagnosed, follow-up procedures such as ultrasounds at a second level of medical care should be performed for the timely detection of congenital malformations associated with high levels of glycemia.
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