Spinal dysraphism with neuropathic bladder and charcot joint

Case contributed by Irvine Sihlahla
Diagnosis certain


Joint pains, recurrent urinary tract infections since childhood

Patient Data

Age: 20 years
Gender: Male

Congenital bone fusion at C7-T1. Scoliosis concave to the right in the lumbosacral region with an associated L4 hemivertebrae/butterfly vertebrae. Extensive T2W high signal throughout the thoracic cord extending to the conus in keeping with syringohydromelia. Cord tethering with a low lying conus that terminates in a neural placode at L5. Small posterior fossa but normal positioned fourth ventricle and no tonsillar herniation. Absent left kidney noted. T1W imaging not done on the current study

X-ray shows vertebral segmentation anomaly with an L4 hemivertebrae and associated scoliosis. No sacral agenesis. Vertebral fusion at the cervicothoracic junction with block vertebrae at C7-T1.

Ultrasound demonstrates an undulating thickened bladder wall in keeping with trabeculated neurogenic bladder with significant post-voiding residual. Absent left kidney with an empty left renal fossa occupied by gas-filled bowel loops. No hydroureteronephrosis. Incidental hypoechoic spleen lesion of indeterminate etiology.

X-ray shows a disorganized joint distended by debris from osseous destruction, fragmentation and resorption. There is associated dislocation of the ankle mortise and subtalar joints. Abnormal bone density with sclerosis and cortical thickening of the distal tibia and fibula. The left 5th toe metatarsal has a tapered 'licked candy stick appearance '. The findings are in keeping with the 6 D's which are the classic appearance of neuropathic joints

Case Discussion

The patient has spinal dysraphism with a low lying conus, neurogenic urinary bladder and neuropathic joint. The differential diagnoses would include VACTERL anomalies but there are not enough features to fulfill the criteria. The patient was being followed up since childhood with multi-disciplinary team involvement.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.