Segmental spinal dysgenesis - a rare type of spinal dysraphism

Segmental spinal dysgenesis is a rare and complex congenital anomaly that affects the spinal cord. It is hypothesized to be a notochord malformation. Patients generally present with spastic paraparesis and a neurogenic bladder. It is characterized by focal spinal cord dysgenesis and kyphoscoliotic deformity. We present the case of a 2-year-old boy who presented to the outpatient department of our hospital with complaints of recurrent urinary tract infection and fever. On examination, he had bilateral clubfoot, kyphoscoliotic deformity, and paraparesis. Further examination by micturating cystourethrogram revealed bilateral grade V vesico-ureteric reflux. Cystoscopy ruled out a posterior urethral valve. Magnetic resonance imaging of the spine was conducted to evaluate any neurological cause, which revealed a high blunt ending of the spinal cord at the dorsal level 10, with the absence of spinal cord tissue between dorsal 10 and sacral 2 level. Bulky cord-like tissue was noted from the sacral 2-4 level. These findings were associated with a syrinx formation and multiple vertebral malformations. The patient was managed conservatively.