Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive form of sensory neuropathy manifesting with the lack of perception of pain.1 There have been few reports of Charcot spine in patients with CIPA,2 and surgery for such cases was accompanied by high revision proportion.3,4 The purpose of this report is to describe a patient with CIPA who developed a recurrent Charcot arthropathy in her lumbar spine and was treated by revision surgery, with the aim to discuss the strategy of surgical management for such cases.
A 15-year-old girl from the eastern part of China was presented to our clinic and stated that she had progressive lumber hump ever since it was detected by her mother 2 years ago. This girl also felt weakness of right lower limb over the past 1 month.
She had a history of anhidrosis and paroxysmal fever since she was born. She was consulted in children's hospital for high fever when she was eleven months old. Neurological examinations showed that the girl was insensitive to superficial painful stimuli. Iodine-starch test revealed no sweating. She was diagnosed with CIPA and pneumonia which was treated with antibiotics. The patient's parents were instructed to protect her from dangerous conditions ever since she was considered as insensitivity to pain. Nevertheless, she experienced right tibial, fibular, and left femoral shaft fracture. Thereafter, these fractures were treated by plaster immobilization or surgical treatment. Limb length discrepancy developed after the fractures of lower limbs.
The patient presented lumbar hump when she visited our clinic. Physical examination showed increased joint laxity, dry skin, and obvious lumbar kyphosis deformity. She had Charcot arthropathy of both ankle joints. She also had 4 cm length discrepancy in right lower extremity shorter than the left and was being treated with orthosis. No obvious acroosteolysis was presented.
Neurological examination showed her thinking processes were slow. Upper extremity strength was normal. Strength was grade 3/5 in right quadriceps and anterior tibialis. She had no pain perception and temperature sensation with normal touch, two-point discrimination, and vibratory sensibility. She exhibited muscle hypotonia with preserved deep tendon reflex and normal cardiovascular reflexes. No pathological reflexes were detected.
A laboratory examination of uric acid, erythrocyte sedimentation rate, C-reactive protein revealed that they were normal. Tuberculin protein purified derivative (PPD) skin test was negative. The X-ray films showed a kyphosis of 48° at the L2, L3 segment with sclerotic, destructive appearance of L2 and L3 vertebrae and L1/2 and L3/4 interspaces (Figures 1A and B). Sagittal MRI showed the compression of dual sac by bony prominence and stenosis of central canal at the kyphosis (Figure 1C). Dual energy X-ray absorptiometry (DEXA) showed normal bone density. The electromyography and sensory nerve conduction velocity (SNCV) of extremities were normal, while sympathic skin reflex (SSR) was impaired. Gene analysis detected an insertion mutation at exon 8 and a missense mutation at exon 10 of the tyrosine kinase receptor type 1 (NTRK1) gene.
The patient was diagnosed with Charcot spine caused by CIPA and lumbar kyphosis. She underwent a posterior vertebra column resection of L2, L3 and reconstruction with mesh cage packed with autologous bone (Figures 1D and E). Instrumentation with pedicle screws was extended from T12 to L5 (CDH-M8, Medtronic, Memphis, TN, USA). Posterior-lateral fusion was performed with autologous bone graft harvested from spinous process and resected cancellous bone. The pathological result showed a combination of necrotic and proliferative osseous tissue. Acid-fast staining was negative. Her postoperative recovery was uneventful. The strength of the right quadriceps and anterior tibialis were recovered to grade 5/5. The lumbar kyphosis was corrected (Figure 1E). She was immobilized in a thoracolumbosacral orthosis for 3 months thereafter. At her 3 months post-operative follow-up, plain X-ray showed a good spinal alignment. So, we decided to get rid of the orthosis. Unfortunately, we found that the pedicle screws of L1, L4, and L5 were pulled out, the cage was displaced at 6 months follow-up (Figure 1F). The physical examination showed the strength of bilateral anterior tibialis was graded to 3/5 again.
The reason of failure was considered to be the increased range of motion because of the patient's deficiency of self-protection and the probably delayed bone growth.2 A revision surgery was performed from posterior approach. The broken pedicle walls were reinforced by compressing bone graft using allogenic bones. The pedicle screws of L1, L4, and L5 were replaced with expansive pedicle screws (EPS). The cage's position was corrected from the circumferential epidural access and the posterior instrumentation was prolonged from T11 to S1. Posterior inter-body fusion was performed at the interspaces of T12/ L1, L4/5, and L5/S1 with allograft and inter-body cage to obtain a 360° solid fusion, combined with posterior lateral fusion with allograft and autograft. Strict bed resting for 3 weeks was instructed for post-operative treatment, followed with a 6 months' strict thoracolumbosacral orthosis protection. The patient was instructed to avoid any possible dangerous actions. Close follow-up showed that the muscle power recovered to 5/5 and the patient had no difficulty with ambulation. The standing AP X-ray showed good lumbar spine alignment and a solid lumbar spine fusion 12 months after the second operation (Figure 1G).
In our case, posterior only spinal fusion of adjacent segments and a relatively short segment of spinal fixation led to the non-union and implants failure for this charcot spine of CIPA patient. For revision surgery, arthrodesis was prolonged and 360° fusion was performed at every segment between instrumented vertebrae by inter-body fusion technique. Additionally, the patient was mobilized in a thoracolumbosacral brace for 6 months to provide enough time for graft fusion. So, a solid spinal arthrodesis was accomplished at the latest follow-up. In our case, the pedicle walls were reinforced with compressing bone graft during revision surgery, so, we could perform instrumentation with pedicle screws from posterior approach again. With all these techniques, revision surgery was successful conducted using one stage posterior approach.
We concluded that surgical stabilization for CIPA patients with Charcot spine should be more extensive, 360° fusion should be performed at every segment with prolonged postoperative brace protection in order to accomplish a successful surgical outcome.
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