Revista chilena de pediatría
versión impresa ISSN 0370-4106
LUQUE H, MARÍA JOSÉ et al. Caudal Regression Syndrome: Clinical Case and Update. Rev. chil. pediatr. [online]. 2010, vol.81, n.2, pp. 148-154. ISSN 0370-4106. http://dx.doi.org/10.4067/S0370-41062010000200007.
Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gastrointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but maternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including first year evolution. Clinical Case: Amale newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confirm 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.
Palabras clave : regression syndrome; caudal dysplasia; sacral agenesis; diabetes; spinal dysraphia.