410 - A case report of Caudal regression syndrome

Case Diagnosis: Lumbosacral agenesis or caudal regression syndrome (CRS) is a rare congenital malformation with varying degrees of early gestational developmental failure characterised by caudal musculoskeletal compromise. It can be associated to neurological, gastrointestinal, renal and genitourinary defects. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. We report a case of CRS of an infant of diabetic mother.

Case Description: We report the case of a 5-year-old from a non-consanguineous marriage. The mother is diabetic and on insulin. The pregnancy was well monitored and the delivery was performed by cesarean section for macrosomia without complications. She was referred to our department at the age of 20 days for talus feet. First clinical examination showed a good neuromotor development. Spine examination showed a curvature regarding the second lumbar vertebra, a bluish spot in the back of the lumbar spine and the left buttock. X-Ray check-up of the spine revealed an agenesis of the sacrum and a defect of closure of the posterior arch of lumber vertabrae. MRI concluded to a syndrome of caudal regression. Moreover, the girl presented bladder and bowel disorders such as urinary incontinence and daytime encopresis. The orthopedic and urological treatment consisted of rehabilitation sessions.

Discussions: The true pathogenesis of CRS is unknown although there is a clear relation with maternal diabetes. The physical exam and the diagnostic test are crucial in the newborn period for the identification of likely complications and establishing a prognosis.

Conclusions: Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of maternal diabetes constitutes the best preventive measure available.