Tohoku J. Exp. Med., 2022 October, 258(2)

Destructive Spondyloarthropathy due to Congenital Insensitivity to Pain with Anhidrosis: A Case Report of Long-Term Follow-Up

Ko Hashimoto,¹ Kohei Takahashi,¹ Takahiro Onoki,¹ Haruo Kanno,² Naoki Morozumi,³ Shin Yamazaki,⁴ Ken-ichiro Yahata³ and Toshimi Aizawa¹

¹Department of Orthopedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
²Department of Orthopedic Surgery, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan
³Department of Orthopedic Surgery, Sendai Nishitaga Hospital, Sendai, Miyagi, Japan
⁴Miyagino Orthopedic Clinic, Sendai, Miyagi, Japan

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive hereditary neuropathy causing congenital loss of pain sensation, thermoception, and perspiration. CIPA sometimes causes destructive spondyloarthropathy, the so-called Charcot spine, because of insensitivity to pain stimuli. Herein, we report a case of CIPA with severe spinal destruction treated by multiple spinal reconstructive surgeries and over 15 years of follow-up. A 15-year-old male patient who had been diagnosed with CIPA at the age of 17 months presented to his previous spine clinic with gait disturbance due to muscle weakness in his lower extremities. Imaging studies revealed that collapsed L3 and L4 vertebral bodies involved the spinal canal, and it was treated by L3-L4 instrumented posterior fusion. Fourteen years after surgery, the patient became unable to walk again due to spinal canal stenosis at the proximal fusion segment. An L2-L3 posterior interbody fusion alleviated his gait ability for 2 years; however, he became unable to stand again because of the collapsed fusion segment that caused severe lumbar kyphosis. Subsequently, a two-staged posterior and anterior fusion surgery from the lower thoracic spine to the pelvis was performed, and spinal fusion and neurological recovery were achieved 3 years after surgery. A kyphotic deformity in patients with CIPA-associated Charcot spine could be favorably treated by a long spinal fusion in combination with a reconstruction of an anterior spinal column. This case report provides a significant lesson for a treatment of CIPA-associated Charcot spine.

Keywords —— Charcot spine; congenital insensitivity to pain and anhidrosis (CIPA); destructive spondyloarthropathy; kyphotic deformity; posterior and anterior spinal fusion surgery

© 2022 Tohoku University Medical Press

===============================

Tohoku J. Exp. Med 2022, 258, 91-95.

Correspondence: Ko Hashimoto, Department of Orthopedic Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

e-mail: khashimoto@med.tohoku.ac.jp