Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is the subtype four of hereditary sensory and autonomic neuropathy (HASN IV), caused by a defect in the NTRK1 gene and presenting early in life. We report a ten-year-old boy with gait problems and an inability to put weight on his feet. Four days before the visit, a trauma entered his right knee during a football match. He had swelling and erythema in his right knee and multiple scars on his torso and limbs. Magnetic resonance imaging (MRI) offered osteomyelitis and soft tissue periosteal abscess. The patient underwent an operation, and based on the pathology results, myositis ossificans (MO) was reported. Moreover, he was treated with antibiotics and supportive measures and was discharged with partial recovery. According to our knowledge, this is the first report of MO due to recurrent trauma in children with CIPA syndrome.
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[3] Mughal M, Farhat A. Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis. Cureus. 2021; ;13(1):e12984. https://doi.org/10.7759/cureus.12984
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[5] Onen MR, Varol E, Tosun M, Naderi S. Nontraumatic Myositis Ossificans as an Uncommon Cause of Scoliosis: Case Report and Review of the Literature. World Neurosurg. 2019;123:208-11. https://doi.org/10.1016/j.wneu.2018.11.259
[6] Sferopoulos NK, Kotakidou R, Petropoulos A. Myositis ossificans in children: a review. Eur J Orthop Surg Traumatol. 2017;27:491- 502. https://doi.org/10.1007/s00590-017-1932-x
[7] Li P-F, Zi-Ling L, Pang Z-H. Non-traumatic myositis ossificans circumscripta at elbow joint in a 9-year old child. Chin J Traumatol. 2016; ;19(2):122-4. https://doi.org/10.1016/j. cjtee.2016.01.009
[8] Kougias V, Hatziagorou E, Laliotis N, Kyrvasillis F, Georgopoulou V, Tsanakas J. Two cases of myositis ossificans in children, after prolonged immobilization. J Musculoskelet Neuronal Interact. 2019; 19(1):118-22.
[9] Hanisch M, Hanisch L, Fröhlich LF, Werkmeister R, Bohner L, Kleinheinz J. Myositis ossificans traumatica of the masticatory muscles: etiology, diagnosis and treatment. Head Face Med. 2018;14(1):23. https://doi.org/10.1186/s13005-018-0180-6
[10] Pereira JR, Bachesk AB, Pierri RAG, Iwaki Filho L. Myositis Ossificans by Bilateral Coronoidectomy and Aggressive Physiotherapy: A Case Report. Craniomaxillofac Trauma Reconstr. 2021;6:2472751220986033. https://doi.org/10.1177/2472751220986033
[11] Lagunilla L, Barragán A, Gorozarri C. Ossifying myositis in the infant. About a case. Rev Esp Cir Ortop Traumatol. 2021;65(2):152-7. https://doi.org/10.1016/j. recote.2021.02.001
[12] Dubuisson A, Lombard A, Otto B. Pseudomalignant myositis ossificans of the neck in a child. Description of a case and review of the literature. World Neurosurg. 2019;130:95-7. https://doi.org/10.1016/j.wneu.2019.06.165
[13] Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, et al. Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. Clin Neurol Neurosurg. 2020;189:105636. https://doi.org/10.1016/j. clineuro.2019.105636
[14] Amroh H, Reyes A, Barret J, Hillary A, al Khaffaf W, Alkhaffaf W. Painless: a case of congenital insensitivity to pain in a 5-year- old male. Oxf Med Case Reports. 2020;2020(7):omaa046. https://doi.org/10.1093/omcr/omaa046
[15] Hanatleh OM, Kofahi NK, Aburahma SK, Bintareef EM, Al- Bashtawy M, Alkhawaldeh A, et al. A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis. Am J Case Rep. 2021;22:e933486. https://doi.org/10.12659/ AJCR.933486.
[2] Peddareddygari LR, Oberoi K, Grewal RP. Congenital Insensitivity to Pain: A Case Report and Review of the Literature. Case Rep Neurol Med. 2014;2014:141953. https://doi. org/10.1155/2014/141953
[3] Mughal M, Farhat A. Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis. Cureus. 2021; ;13(1):e12984. https://doi.org/10.7759/cureus.12984
[4] Walczak BE, Johnson CN, Howe BM. Myositis Ossificans. J Am Acad Orthop Surg. 2015;23(10):612-22. https://doi. org/10.5435/JAAOS-D-14-00269
[5] Onen MR, Varol E, Tosun M, Naderi S. Nontraumatic Myositis Ossificans as an Uncommon Cause of Scoliosis: Case Report and Review of the Literature. World Neurosurg. 2019;123:208-11. https://doi.org/10.1016/j.wneu.2018.11.259
[6] Sferopoulos NK, Kotakidou R, Petropoulos A. Myositis ossificans in children: a review. Eur J Orthop Surg Traumatol. 2017;27:491- 502. https://doi.org/10.1007/s00590-017-1932-x
[7] Li P-F, Zi-Ling L, Pang Z-H. Non-traumatic myositis ossificans circumscripta at elbow joint in a 9-year old child. Chin J Traumatol. 2016; ;19(2):122-4. https://doi.org/10.1016/j. cjtee.2016.01.009
[8] Kougias V, Hatziagorou E, Laliotis N, Kyrvasillis F, Georgopoulou V, Tsanakas J. Two cases of myositis ossificans in children, after prolonged immobilization. J Musculoskelet Neuronal Interact. 2019; 19(1):118-22.
[9] Hanisch M, Hanisch L, Fröhlich LF, Werkmeister R, Bohner L, Kleinheinz J. Myositis ossificans traumatica of the masticatory muscles: etiology, diagnosis and treatment. Head Face Med. 2018;14(1):23. https://doi.org/10.1186/s13005-018-0180-6
[10] Pereira JR, Bachesk AB, Pierri RAG, Iwaki Filho L. Myositis Ossificans by Bilateral Coronoidectomy and Aggressive Physiotherapy: A Case Report. Craniomaxillofac Trauma Reconstr. 2021;6:2472751220986033. https://doi.org/10.1177/2472751220986033
[11] Lagunilla L, Barragán A, Gorozarri C. Ossifying myositis in the infant. About a case. Rev Esp Cir Ortop Traumatol. 2021;65(2):152-7. https://doi.org/10.1016/j. recote.2021.02.001
[12] Dubuisson A, Lombard A, Otto B. Pseudomalignant myositis ossificans of the neck in a child. Description of a case and review of the literature. World Neurosurg. 2019;130:95-7. https://doi.org/10.1016/j.wneu.2019.06.165
[13] Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, et al. Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. Clin Neurol Neurosurg. 2020;189:105636. https://doi.org/10.1016/j. clineuro.2019.105636
[14] Amroh H, Reyes A, Barret J, Hillary A, al Khaffaf W, Alkhaffaf W. Painless: a case of congenital insensitivity to pain in a 5-year- old male. Oxf Med Case Reports. 2020;2020(7):omaa046. https://doi.org/10.1093/omcr/omaa046
[15] Hanatleh OM, Kofahi NK, Aburahma SK, Bintareef EM, Al- Bashtawy M, Alkhawaldeh A, et al. A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis. Am J Case Rep. 2021;22:e933486. https://doi.org/10.12659/ AJCR.933486.
| Files | ||
| Issue | Vol 7 No 2 (2022): March-April | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v7i2.10827 | |
| Keywords | ||
| Myositis ossificans Congenital insensitivity to pain Children | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Nafei Z, Jafari M. Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story. CRCP. 2022;7(2):97-100.
