Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report

Abstract

Background: Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3-8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well.

Case presentation: A 51-year male developed incomplete tetraplegia in 1997 when he slipped and fell backwards hitting his head on the floor. X-rays of cervical spine showed fusion at two levels: C2 and C3 vertebrae, and C4 and C5 vertebrae. Intravenous urography (IVU) revealed no kidneys in the renal fossa on both sides, but the presence of crossed, fused renal ectopia in the left ilio-lumbar region. This patient had a similar cervical spinal cord injury about 15 years ago, when he developed transient numbness and paresis of the lower limbs following a fall.

Discussion and conclusion: 1) Persons with Klippel-Feil syndrome should be made aware of the increased risk of sustaining transient neurologic deterioration after minor trauma if there is associated radiographic evidence of spinal stenosis.2) Patients with Klippel-Feil syndrome often have congenital anomalies of the urinary tract. Our patient had crossed, fused, ectopia of kidney.3) When patients with Klippel-Feil syndrome sustain tetraplegia they have increased chances of developing urinary tract calculi. Treatment of kidney stones may pose a challenge because of associated renal anomalies.4) Health professionals caring for cervical spinal cord injury patients with Klippel-Feil syndrome and renal anomalies should place emphasis on prevention of kidney stones. A large fluid intake is recommended for these patients, as a high intake of fluids is still the most powerful and certainly the most economical means of prevention of nephrolithiasis.

Figure 1

Lateral view of cervical spine shows congenital fusion of bodies of C2 with C3, and vertebral bodies of C4 with C5.

Figure 2

MRI of cervical spine shows continuity of the vertebral body of C2 and C3. There is fusion of the vertebral bodies of C4 and C5. Marked disc narrowing and spondylotic changes at C3-4 (level of Cloward procedure).

Figure 3

20-minute film of intravenous urography shows crossed, fused renal ectopia in the left ilio-lumbar region.

Figure 4

Coned view of kidney shows anteriorly rotated large extra-renal pelvis, which is occupying the centre and a further renal pelvis with normal configuration facing laterally.

Figure 5

Ultrasound examination of kidney shows two distinct renal sinus echo patterns thus confirming the presence of a crossed, fused renal ectopia.

Figure 6

MAG 3 renogram (images obtained in prone position) shows no kidney in the right side. There is functioning renal tissue in the left ilio-lumbar region.