Document Type : Case Report

Authors

1 Rheumatic Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

2 Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

10.32592/RR.2024.9.1.57

Abstract

Charcot neuropathic arthropathy is a destructive process that can occur in patients with neuropathy associated with medical diseases such as diabetes. A rare cause of neuropathic arthropathy is congenital insensitivity to pain (CIP) which includes varying degrees of sensory loss and lack of pain perception contributing to absent withdrawal responses. The clinical manifestations of CIP include delayed diagnosis of fractures, joint dislocations, acro-osteolysis, avascular necrosis, osteomyelitis, heterotopic ossification, and Charcot arthropathy. We herein report a case of Charcot arthropathy of ankle joints in a 5-year-old girl with CIP due to underlying hereditary sensory and autonomic neuropathy who had recurrent upper and lower limb fractures with acro-osteolysis. She had an inability to perceive pain from the first year of her life. She also had mild developmental delay. Family history was unremarkable. Blood count, liver and thyroid function tests, erythrocyte sedimentation rate, C-reactive protein, blood electrolytes, blood sugar and other laboratory tests were normal. Charcot neuropathic arthropathy in children is rare and can be a part of congenital diseases like CIP. A high degree of suspicion may lead to early detection and can prevent joint and bone destruction and deformities

Keywords

Main Subjects

  1. Schon LC, Easley ME, Weinfeld SB. Charcot neuroarthropathy of the foot and ankle. Clin Orthop Relat Res 1998(349):116-31. doi: 10.1097/00003086-199804000-00015.
  2. Pinzur MS, Shields N, Trepman E, Dawson P, Evans A. Current practice patterns in the treatment of Charcot foot. Foot Ankle Int 2000; 21(11):916-20. doi: 10.1177/107110070002101105.
  3. Kenis V, Baindurashvili A, Ivanov S. Charcot arthropathy in children. Wound Medicine 2013; 2-3:16-21. doi: https://doi.org/10.1016/j.wndm.2013.10.005.
  4. Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012; 8(2):73-85. doi: 10.1038/nrneurol.2011.227.
  5. van Ness Dearborn G. A CASE OF CONGENITAL GENERAL PURE ANALGESIA. J Nerv Ment Dis 1932; 75(6):612-15. doi: 10.1097/00005053-193206000-00002.
  6. Staudt MD, Bailey CS, Siddiqi F. Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature. Neurosurg Rev 2018; 41(4):899-908. doi: 10.1007/s10143-017-0814-3.
  7. Jokar M, Zafari N, Velayati M, Hashemzadeh K. Bilateral Popliteal Artery Occlusion in a Young Woman as a Rare Complication of Systemic Sclerosis: A Case Report. Rheum Res 2022; 7(3):89-92
  8. Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis 2007; 2(39):1-12. doi: 10.1186/1750-1172-2-39.
  9. Nagasako EM, Oaklander AL, Dworkin RH. Congenital insensitivity to pain: an update. Pain 2003; 101(3):213-19. doi: 10.1016/s0304-3959(02)00482-7.
  10. Erdil M, Bilsel K, Imren Y, Ceylan HH, Tuncay I. Total hip arthroplasty in a patient with congenital insensitivity to pain: a case report. J Med Case Rep 2012; 6:190. doi: 10.1186/1752-1947-6-190.
  11. Varma AK. Charcot neuroarthropathy of the foot and ankle: a review. J Foot Ankle Surg 2013; 52(6):740-9. doi: 10.1053/j.jfas.2013.07.001.
  12. Akbari F, Rezaeetalab F, Zafari N, Velayati M. Pulmonary thromboembolism: as the first and only presentation of Covid19 infectious. Journal of Cardio-Thoracic Medicine 2021; 9(2):829-32. doi: 10.22038/jctm.2021.57380.1327.
  13. Nagarkatti DG, Banta JV, Thomson JD. Charcot arthropathy in spina bifida. J Pediatr Orthop 2000; 20(1):82-7.
  14. Yalcin S, Kocaoglu B, Berker N, Erol B. Conservative treatment of Charcot artroparthy in a series of spina bifida patients: the experience of one center and review of the literature. J Pediatr Orthop B 2007; 16(5):373-9. doi: 10.1097/01.bpb.0000218029.81395.95.
  15. Zafari N, Velayati M, Fahim M, Maftouh M, Pourali G, Khazaei M. et al. Role of gut bacterial and non-bacterial microbiota in alcohol-associated liver disease: Molecular mechanisms, biomarkers, and therapeutic prospective. Life Sci 2022; 305:120760. doi: 10.1016/j.lfs.2022.120760.
  16. Lokiec F, Arbel R, Isakov J, Wientroub S. Neuropathic arthropathy of the knee associated with an intra-articular neurofibroma in a child. J Bone Joint Surg Br 1998; 80(3):468-70. doi: 10.1302/0301-620x.80b3.8522.
  17. Sakaria RP, Fonville MP, Peravali S, Zaveri PG, Mroczkowski HJ, Caron E. et al. A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review. Am J Med Genet A 2022; 188(4):1245-50. doi: 10.1002/ajmg.a.62609.
  18. Cascella M, Muzio MR, Monaco F, Nocerino D, Ottaiano A, Perri F. et al. Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity. Pathophysiology 2022; 29(3):435-52. doi: 10.3390/pathophysiology29030035.
  19. D'Souza RS, Langford B, Wilson RE, Her YF, Schappell J, Eller JS. et al. The state-of-the-art pharmacotherapeutic options for the treatment of chronic non-cancer pain. Expert Opin Pharmacother 2022; 23(7):775-89. doi: 10.1080/14656566.2022.2060741.