Caudal Regression Syndrome with Absence of the Sacrum. A Case Report
Keywords:
Agenesia, Sacro, Regresión Caudal, ANODONCIA; SACRO; REGRESIÓN; CAUDAL., ANODONTIA; SACRUM; REGRESSION; CAUDAL.Abstract
Introduction: caudal Regression Syndrome with Absence of the Sacrum is a rare congenital malformation characterized by the partial or total absence of the sacrum, associated with vertebral, genitourinary, and gastrointestinal anomalies. Its diagnosis is based on imaging studies, and treatment requires a multidisciplinary approach, including orthopedic, urological, and gastrointestinal management.
Objective: to present a clinical case of Caudal Regression Syndrome, highlighting its clinical manifestation, diagnosis and management.
Case presentation: a female newborn, the product of dystocic labor at 34.4 weeks, was admitted 50 minutes after birth due to moderate vaginal discharge seven hours prior. The mother had a history of gestational diabetes. Upon admission to the neonatal unit, the neonatal MAMA score was 0. At 20 minutes of life, the neonatal desaturation level was 79%, with no signs of respiratory distress. The neonatal neonate required free-flow oxygen and was admitted to the neonatal unit for evaluation. Imaging studies showed an absence of the sacrum and lumbosacral vertebral abnormalities.
Conclusions: the entity evaluated is a rare congenital disorder that affects the development of the lower spine, associated with maternal diabetes and environmental factors. Its clinical presentation varies, ranging from skeletal abnormalities to complex visceral malformations. Timely prenatal and postnatal diagnosis is key to optimizing management. Treatment is multidisciplinary and personalized, integrating metabolic control, corrective surgeries, and rehabilitation therapies to improve the patient's quality of life and functionality.
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