Síndrome de Regresión Caudal: Caso Clínico

Caudal Regression Syndrome: Clinical Case and Update Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnor- malities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gas- trointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but ma- ternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including fi rst year evolution. Clinical Case: A male newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confi rm the diagnosis, show presence of 7 cervical vertebrae, 8 thoracic, agenesia of distal dorsal and lumbosacral spine. No spinal disraphia, medular conus at D2. Conclusion: The reported case shows that early diagnosis and multidisciplinary evaluation of the patient are essential elements to decrease complications and improve prognosis. (Key words: Caudal regression syndrome, caudal dysplasia, sacral agenesis, diabetes, spinal dysraphia). Rev Chil Pediatr 2010; 81 (2): 148-154