Abstract
Purpose: Congenital insensitivity to Pain (CIP) is a rare peripheral neuropathy which may affect various sensory pathways and often affects the autonomic nervous system. Musculoskeletal manifestations include infections, fractures, growth disturbances, avascular necrosis, Charcot arthropathy, joint dislocations and heterotopic ossification. The purpose of the study was to review the orthopaedic problems in patients with Congenital Insensitivity to Pain and make treatment recommendations.
Methods: Thirteen patients from eight families were examined and all charts and radiographs were reviewed. A quantitative sweat test was performed in five patients and an intradermal histamine test in ten.
DNA was prepared in all patients and examined for specific mutations.
Results: Three clinical presentations were found:
Type A – Five patients presented with multiple infections requiring many surgical procedures ranging from local debridement to below knee amputation.
Type B – Three patients presented with fractures and growth disturbances of the lower limbs as well as avascular necrosis of the talus or femoral condyle. Two patients underwent corrective osteotomies due to deformities. Type C – Five patients presented with Charcot arthropathies, joint dislocations, fractures and infections. Four of them were mentally retarded.
Patients underwent multiple surgical procedure to control infections.
Attempts surgical stabilization of joints were unsuccessful.
Mutations were found in four patients.
Conclusions
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Patient education, shoe ware and periods of non weight bearing are important in prevention and early treatment of decubitus ulcers.
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Differentiation between fractures and infections is difficult and should be based on aspiration and cultures in order to prevent unnecessary surgery.
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Established infections should be treated by wide surgical debridement.
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Deformities should be treated by corrective osteotomies and shortening should be treated with shoe lifts or epiphysiodesis.
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Joint dislocations should be treated non-operatively as attempts at surgical stabilization gave poor results.
The abstracts were prepared by Orah Naor. Correspondence should be addressed to him at the Israel Orthopaedic Association, PO Box 7845, Haifa 31074, Israel.
