A Case Report of Jarcho- Levin Syndrome and Caudal Regression Syndrome in A Five Year Old Girl

Jarcho- Levin syndrome and caudal regression syndrome are rare syndromes with clinical and radiologic findings of cervical and thoracic vertebral anomalies with rib deformities (jarcho-levin syndrome) and sacrococcygeal agenesis, lower extremity anomalies, truncated spinal cord and neurogenic bladder (caudal regression syndrome). There are only one report of simultaneous existence of these two syndromes in a dead fetus in literature.Case Report: The case was a 5 year old girl who had history of bilateral hip dysplasia and spastic dipleigia of lower limbs who presented with recurrent urinary tract infections. X - Ray findings was extensive vertebral anomalies such as hemivertebrae, butterfly vertebrae, coccygeal agenesis and rib deformities. MRI findings was termination of spinal cord at low thoracic level, cystic mass of sacral area. This case is a rare simultaneous occurrence of Jarcho-levin and Cauda regression syndrome in a patient and to our best knowledge is reported for the first time in Iran.