Literature DB >> 24642843

Congenital insensitivity to pain in a child attending a paediatric fracture clinic.

Mohamed Abdulla1, Sari S Khaled, Yazan S Khaled, Harish Kapoor.   

Abstract

Congenital insensitivity to pain is a rare condition that is often undiagnosed until patients present with a variety of musculoskeletal problems. A major sequel of these orthopaedic manifestations is the development of heterotopic ossification and callus formation following fractures, eventually leading to the development of a Charcot's joint. This case reports on a 7-year-old child who was diagnosed with congenital insensitivity to pain type V, after he presented in our clinic with fractures of the metatarsals in his left foot while continuing to weight bear, without any discomfort. The patient failed to attend the follow-up in paediatric neurology clinic despite multiple invitations. This case highlights the importance of establishing an early diagnosis and keeping a close eye on this rare entity, which can present for the first time in a paediatric fracture clinic.

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Year:  2014        PMID: 24642843     DOI: 10.1097/BPB.0000000000000051

Source DB:  PubMed          Journal:  J Pediatr Orthop B        ISSN: 1060-152X            Impact factor:   1.041


  3 in total

1.  Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Authors:  Voraluck Phatarakijnirund; Steven Mumm; William H McAlister; Deborah V Novack; Deborah Wenkert; Karen L Clements; Michael P Whyte
Journal:  Bone       Date:  2015-12-31       Impact factor: 4.398

2.  Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis.

Authors:  L M Pérez-López; M Cabrera-González; D Gutiérrez-de la Iglesia; S Ricart; G Knörr-Giménez
Journal:  Case Rep Pediatr       Date:  2015-10-22

3.  Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

Authors:  Andrés López-Cortés; Ana Karina Zambrano; Patricia Guevara-Ramírez; Byron Albuja Echeverría; Santiago Guerrero; Eliana Cabascango; Andy Pérez-Villa; Isaac Armendáriz-Castillo; Jennyfer M García-Cárdenas; Verónica Yumiceba; Gabriela Pérez-M; Paola E Leone; César Paz-Y-Miño
Journal:  BMC Med Genomics       Date:  2020-08-17       Impact factor: 3.063

  3 in total

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