Familial Case of Congenital Insensitivity to Pain with Anhidrosis in a Black African Patient
Insensibilité Congénitale à la Douleur avec Anhidrose en Milieu Africain : À Propos d’un Cas Familial
DOI:
https://doi.org/10.5281/hra.v2i11.6143Keywords:
Congenital insensitivity, pain, anhidrosisAbstract
RÉSUMÉ
L’insensibilité congénitale à la douleur avec anhidrose (CIPA ; MIM #256800) est la neuropathie sensitive autonomique de type IV à transmission autosomique récessive. Il faut l’évoquer devant la symptomatologie clinique distinctif associant une insensibilité à la douleur, une anhidrose, des épisodes d’hyperthermie inexpliquée et des lésions d’automutilations oro-digitales. L’objectif était de rapporter un cas familial deux soeurs présentant une CIPA et de discuter les difficultés de prise en charge au Sénégal. Il s’agissait de deux soeurs âgées de 10 ans et 6 ans issues d’un mariage consanguin qui présentaient des complications fonctionnelles et de graves séquelles orthopédiques liées à la méconnaissance et au retard du diagnostic.
ABSTRACT
Congenital insensitivity to pain with anhidrosis (CIPA ; MIM #256800) is a type IV autonomic sensory neuropathy with autosomal recessive inheritance. It should be mentioned in the face of the distinctive clinical symptomatology associating insensitivity to pain, anhidrosis, episodes of unexplained hyperthermia and oro-digital self-mutilation lesions. The objective was to report a family case of two sisters presenting with CIPA and to discuss the difficulties of treatment in Senegal. These were two sisters aged 10 and 6 years from a consanguineous marriage who presented functional complications and serious orthopedic after-effects linked to lack of awareness and delay in diagnosis.
References
Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485-8. [PubMed][CrossRef][Google Scholar]
Swanson AG. Congenital insensitivity to pain with anhidrosis: a unique syndrome in two male siblings. Arch Neurol. 1963;8:299-306. [PubMed][Google Scholar]
Ndiaye M, Diagne M, Thiam A. Case report/cas clinique neuropathie sensitive congenitale congenital sensory neuropathy. Somm Contents. 2006;25(2):71.[Google Scholar]
Scott KR, Kothari MJ. Hereditary neuropathies. Semin Neurol. 2005;25(2):174-84. [PubMed][Google Scholar]
Theodorou SD, Klimentopoulou AE, Papalouka E. Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature. Acta Orthop Belg. 2000;66:137-45. [CAS][PubMed][Google Scholar]
Hanatleh OM, Kofahi NK, Aburahma SK, Bintareef EM, Al-Bashtawy M, 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. [CrossRef][Google Scholar]
Weisman A, Quintner J, Masharawi Y. Congenital insensitivity to pain: A misnomer. J Pain. 2019;20(9) 1011-4. [Google Scholar]
Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, et al. Not ‘indifference to pain’ but varieties of hereditary sensory and autonomic neuropathy. Brain. 1983;106:373-90. [PubMed][Google Scholar]
Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, et al. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Joint Surg Br. 2002;84(2):252-7. [Google Scholar]
Achbouk A, Mokfi MA, Ribag Y, Besri S, Amhager S, et al. “Reconstruction Labiale Chez Un Enfant Atteint D’une Insensibilité Congénitale A La Douleur.” IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) 2020;19(5): 28-31. [Google Scholar]
Guenane Y, Messaoudi Z, Aouadi D. Prise en charge odontostomatologique de l’insensibilité congénitale à la douleur: A propos d’un cas. Inter Jour Res. 2023; 2(4):34-7. [Google Scholar]
Redouani L, Léauté-Labrèze C, de Villar SR, Taïeb A, Sarlangue J. Difficulté de prise en charge d’une insensibilité congénitale à la douleur. Archives de pédiatrie. 2002; 9(7):701-4. [Google Scholar]
Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol. 1994;11:50-6. [PubMed][CrossRef][Google Scholar]
Itoh Y, Yagishita S, Nakajima S, Nakano T. Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves. Neuropediatrics. 1986;17:103–10. [Crossref][PubMed][Google Scholar]
Hasegawa Y, Ninomiya M, Yamada Y, Hattori T. Osteoarthropathy in congenital sensory neuropathy with anhidrosis. Clin Orthop Relat Res. 1990;258:232-6. [PubMed][Google Scholar]
Morris CM, Hao QL, Heisterkamp N, Fitzgerald PH, Groffen J. Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24. Oncogene. 1991;6:1093-5. [CAS][PubMed][Web of Science®][Google Scholar]
Greco A, Villa R, Pierotti MA. Genomic organization of the human NTRK1 gene. Oncogene. 1996;13(11):2463-6. [CAS][PubMed][Web of Science®] [Google Scholar]
Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, et al. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet. 1999; 64:1570-9. [Crossref][PubMed][Google Scholar]
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Copyright (c) 2024 Camara Souleymane, Lo Faty Balla, Cissé Lissoune, Gassama Fatou, Kamaté André Matièré, Sarr Adji Marème, Ndour Oumar, Ngom Gabiel
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