Congenital insensitivity to pain syndrome accompanied by neglected orthopedic traumas and complications

Recep Kurnaz, Murat Asci, Orhan Balta, Kursad Aytekin, Taner Gunes

Abstract


Pain is a protective mechanism. Congenital insensitivity to pain syndrome is a very rare disease in which there is no ability to feel physical pain. It has been reported that it occurs with an incidence of 1 in 125 million newborn. Patients with congenital insensitivity to pain may have various orthopedic complications such as recurrent fractures, osteomyelitis and neuropathic joints. The most frequently affected body parts are lower extremities. Besides, curvature of spine can be seen. Injuries in epiphyseal points may cause incompatibility of extremity. Charcot joints may develop, which can lead to neuropathic arthropathy as a result of insensitivity to pain. Here, we present a patient with traumatic fracture-dislocation on left hip that neglected the treatment, had a bilateral femur fracture and then had septic arthritis of knee.

Keywords


CİPA, Congenital insensitivity to pain syndrome, orthopedic complications

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References


Ravichandra KS, Kandregula CR, Koya S, Lakhotia D. Congenital insensitivity to pain and anhydrosis: diagnostic and therapeutic dilemmas revisited. Int J Clin Pediatr Dent 2015; 8:75–81.

van den Bosch GE, Baartmans MG, Vos P, Dokter J, White T, Tibboel D. Pain insensitivity syndrome misinterpreted as inflicted burns. Pediatrics 2014; 133:e1381–e1387.

Dyck PJ, Ohta M. Neural atrophy and degeneration predominantly affecting peripheral sensory neurons: In Peripheral Neuropathy, Dyck PJ, Thomas PK, Lambert EH, editors. Toronto: WB Saunders Co 1975; 2:791-812.

Nagasako E, Oaklander A, Dworkin R. Congenital insensitivity to pain: an update. Pain 2003; 101:213e9.

Swanson AG. Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch Neurol 1963; 8:299–306.

Sandroni P, Martin DP, Bruce BK, Rome JD. Congenital idiopathic inability to perceive pain: anew syndrome of insensitivity to pain and itch with preserved small fibers. Pain 2006; 122:210–215.

Thrush DC. Congenital insensitivity to pain. A clinical, genetic and neurophysiological study of four children from the same family. Brain J Neurol 1973; 96:369–386.

Kissani N, Krrati H, Alarcon G, Belaaidi H, Ouazzani R. Congenital insensitivity to pain: clinical and neurophysiological study in three sisters of a Moroccan family. Arch pediatr 2013; 20:1219–1224.

Bronfen C, Bensahel H, Teule JG. Orthopedic aspects of congenital insensitivity to pain. Chir Pediatr 1985; 26:193–196.

Ali N, Sharma S, Sharma S, Kamal Y, Sharma S. Congenital insensitivity to pain with anhidrosis (HSAN type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report. Iran J Pediatr 2012; 22:559–563.

Guidera KJ, Multhopp H, Ganey T, Ogden JA. Orthopaedic manifestations in congenitally insensate patients. J Pediatr Orthop 1990; 10:514–521.

Gupta B. Congenital insensitivity of pain with anhidrosis; clinical brief. Indian J Pediatr 2003; 70(1):109e11.

Melamed I, Levy J, Parvari R, Gelfand EW. A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). J Clin Immunol 2004; 24:441–448.

Asaumi K, Nakanishi T, Asahara H, Inoue H, Takigawa M. Expression of neurotropins and their receptors (TRK) during fracture healing. Bone 2000; 26:625e33.

Grills BL, Schuijers JA. Immunohistochemical localization of nerve growth factor in fractured and unfractured rat bone. Acta Orthop Scand 1998; 69:415e9.

Schulman H, Tsodikow V, Einhorn M, Levy Y, Shorer Z, Hertzanu Y. Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings. Pediatr Radiol 2001; 31:701e5.

Magee KR, Schneider RC. Syringomyelia. Loss of deep-pain sensation with otherwise normal sensory perception. JAMA 1967; 200:795–796.

Grados MA, Alvi MH, Srivastava S. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry 2017; 30(2):92-96.

Cauwels RG, Martens LC. Self-mutilation behaviour in Lesch-Nyhan syndrome. J Oral Pathol Med 2005; 34(9):573-575.

Makari GS, Carroll JE, Burton EM. Hereditary sensory neu- ropathy manifesting as possible child abuse. Pediatrics 1994; 93:842–844.

Karthikeyan M, Sreenivas T, Menon J, Patro DK. Congenital insensitivity to pain and anhydrosis: a report of two cases. J Orthop Surg 2014; 21:125–128.

Zhang Y, Haga N. Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. J Orthop Sci Off J Japanese Orthop Assoc 2014; 19:827–831.

Jerath NU, Shy ME. Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies. Biochim Biophys Acta 2015; 1852:667–678.




DOI: http://dx.doi.org/10.22551/2017.14.0401.10090

Copyright (c) 2017 Recep Kurnaz, Murat Asci, Orhan Balta, Kursad Aytekin, Taner Gunes

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ISSN: 2360-6975