Caudal regression syndrome diagnosed after the childhood period: a case report

Caudal regression syndrome is a pathology caused by anomaly of spinal trunk ‘ending’, and encompasses a wide range of anomalies of the hind end of the trunk, including partial agenesis of the thoracolumbosacral spine, imperforate anus, malformed genitalia, bilateral renal dysplasia or aplasia, pulmonary hypoplasia, and in the most severe deformities, extreme external rotation and fusion of the lower extremities (sirenomelia). The syndrome is significantly associated with several systems, including congenital cardiac disease (24%), genito-urinary disease like hydronephrosis, renal agenesis, epispadias and hypospadias (24%), orthopedic anomalies like gluteal anomalies, scoliosis, and talipes deformities (12%), and progressive deficits like back and leg pain (30%). Tethered cord, dermoid cyst, lipoma and diastematomyelia may emerge in the central nervous system [1-3]. Examination and clinical follow-up are important for the decision of operation if these anomalies are suspected to cause neurological deficits. Myelography and myelocomputerized tomography (CT) have been replaced today by magnetic resonance imaging (MRI) as the gold standard for diagnosis [1, 2, 4-6]. There is a definite but incomplete association of the syndrome with diabetes mellitus; 1% of the offspring of diabetic mothers will have a form of this syndrome. Genetic changes caused by teratogens and pathologies 7q have been suggested as other factors [2]. Caudal regression syndrome has been reported only rarely after the childhood period in the literature.