A rare presentation of segmental spinal dysgenesis: Clinical and radiological findings

Segmental spinal dysgenesis is a rare and complex congenital condition affecting the dorso-lumbar spine, characterized by focal spinal cord dysgenesis and kypho-scoliotic deformity. It arises due to notochord malformation during embryogenesis. The case in question involves a 2-year-old female child. She presented to the outpatient department of our hospital with a history of inability to walk and increased frequency of micturition. The patient's mother had no antenatal visits. Upon examination, the patient was found to have a scoliotic deformity. Magnetic resonance imaging (MRI) of the spine revealed an absence of the spinal cord and spinal nerves from the T5 to L2 levels. A relatively thick spinal cord was visible from the L2 to L4 level. There was a complete absence of the spinal canal at the D10 and D11 levels, along with dorsal levoscoliosis. Segmental anomalies of the vertebrae were also noted in the dorsal spine. Additionally, imaging showed features of neurogenic bladder and mild left hydroureteronephrosis. The child underwent rehabilitation and surgical correction of the scoliosis.