Document Type : Case Report

Authors

Department of Physical Medicine and Rehabilitation, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

10.30476/jrsr.2023.96209.1311

Abstract

Background: Charcot-Marie-Tooth disease (CMTD) is a group of hereditary motor and sensory neuropathies with a prevalence of approximately 1 per 2,500 individuals. The most common feature of this disease is muscle weakness and impaired sensation in the extremities. However, this disease group, which includes various heterogeneous diseases, can present in different ways, such as foot infections and ulcers.
Case presentation: In this case report study, we discuss an 18-year-old female patient who was referred to us with a non-healing ulcer on the plantar surface of her right foot. She was diagnosed with CMTD based on her history of sensory and motor symptoms, as well as the results of electromyography. After five sessions of extracorporeal shock wave therapy (ESWT), her ulcer healed successfully.
Conclusion: In addition to the importance of considering patient symptoms for the diagnosis of CMTD, this case demonstrates the effectiveness of ESWT in promoting wound healing for a non-healing ulcer within a CMTD context. Further research is necessary to validate this treatment as a standard of care for such patients.
 

Keywords

  1. Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011;16(1):1-14.
  2. Vallat JM, Mathis S, Funalot B. The various Charcot-Marie-Tooth diseases. Curr Opin Neurol. 2013;26(5):473-80.
  3. Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, et al. Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. Acta Neuropathol. 2013;125(2):257-72.
  4. Zhang L, Fu XB, Chen S, Zhao ZB, Schmitz C, Weng CS. Efficacy and safety of extracorporeal shock wave therapy for acute and chronic soft tissue wounds: A systematic review and meta-analysis. Int Wound J. 2018;15(4):590-9.
  5. Taheri P, Khosrawi S, Mazaheri M, Parsa MA, Mokhtarian A. Effect of extracorporeal shock wave therapy on improving burn scar in patients with burnt extremities in Isfahan, Iran. J Res Med Sci. 2018;23:81.
  6. Wang CJ, Cheng JH, Kuo YR, Schaden W, Mittermayr R. Extracorporeal shockwave therapy in diabetic foot ulcers. Int J Surg. 2015;24(Pt B):207-9.
  7. Romeo P, Lavanga V, Pagani D, Sansone V. Extracorporeal shock wave therapy in musculoskeletal disorders: a review. Med Princ Pract. 2014;23(1):7-13.
  8. Judhan RJ, Maharaj SR, Perry A, Dellon AL, Maharaj D. Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man. Microsurgery. 2012;32(3):223-6.
  9. Morena J, Gupta A, Hoyle JC. Charcot-Marie-Tooth: From Molecules to Therapy. Int J Mol Sci. 2019;20(14).
  10. Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. J Neurol Sci. 2014;347(1-2):14-22.
  11. Kizilkurt OK, Kizilkurt T, Gulec MY, Giynas FE, Polat G, Kilicoglu OI, et al. Quality of life after lower extremity amputation due to diabetic foot ulcer: the role of prosthesis-related factors, body image, self-esteem, and coping styles. Dusunen Adam. 2020;2(33):109-19.
  12. Simplicio CL, Purita J, Murrell W, Santos GS, Dos Santos RG, Lana J. Extracorporeal shock wave therapy mechanisms in musculoskeletal regenerative medicine. J Clin Orthop Trauma. 2020;11(Suppl 3):S309-s18.
  13. Ren H, You C, Han C. A chronic leg ulcer presenting with Charcot-Marie-Tooth disease and type 2 diabetes: a case report. Int J Low Extrem Wounds. 2013;12(1):30-4.
  14. Yan Z, Chen D, Yao L, Wang C, Ran XW. Diabetes coexistent with Charcot-Marie-Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: A case report. J Diabetes Investig. 2021;12(11):2099-101.
  15. Lechleitner M, Abrahamian H, Francesconi C, Kofler M, Sturm W, Köhler G. [Diabetic neuropathy and diabetic foot syndrome (Update 2019)]. Wien Klin Wochenschr. 2019;131(Suppl 1):141-50.