NOT ANOTHER CASE OF JUVENILE IDIOPATHIC ARTHRITIS: CONGENITAL INSENSITIVITY TO PAIN PRESENTING WITH JOINT PROBLEMS

Authors

  • Sadia Khurshid Department of Rheumatology Pakistan Institute of Medical Sciences, Islamabad-Pakistan
  • Tayyeba Khursheed Department of Rheumatology Pakistan Institute of Medical Sciences
  • Muhammad Sufyan Khan Department of Rheumatology Pakistan Institute of Medical Sciences, Islamabad-Pakistan

Keywords:

Congenital insensitivity to pain, Neurogenic arthropathy, Charcots joints, Hereditary sensory and autonomic neuropathy

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare condition with protean manifestations. Occasionally, these diseases may present with musculoskeletal problems. Here we report a case of young child who presented with joint problems in our clinic. Since the child had a number of musculoskeletal manifestations her diagnosis was difficult and delayed. She was given supportive treatment and a team of doctors from different specialties was involved in her management.

Author Biography

Tayyeba Khursheed, Department of Rheumatology Pakistan Institute of Medical Sciences

Post graduate resident, Department of Rheumatology Pakistan

References

Haga N, Kubota M, Miwa Z. Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. Am J Med Genet A 2013;161A(4):871–4.

Kim W, Guinot A, Marleix S, Chapuis M, Fraisse B, Violas P. Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. Orthop Traumatol Surg Res 2013;99(7):881–5.

Auer-Grumbach M. Hereditary sensory and autonomic neuropathies. Handb Clin Neurol 2013;115:893–906.

Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, et al. Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin Genet 2009;75(3):230–6.

Indo Y. Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis. Clin Genet 2012;82(4):341–50.

Ashwin DP, Chandan GD, Jasleen HK, Rajkumar GC, Rudresh KB, Prashanth R. Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature. Oral Maxillofac Surg 2015;19(2):117–23.

Daneshjou K, Jafarieh H, Raaeskarami SR. Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. Iran J Pediatr 2012;22(3):412–6.

Schwartzlow C, Kazamel M. Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification. Curr Neurol Neurosci Rep 2019;19(8):52.

Algahtani H, Naseer MI, Al-Qahtani M, Abdulrahman SA, Boker F, Shirah B. Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family. J Neurol Sci 2016;370:35–8.

Schon K, Parker A, Woods CG. Congenital Insensitivity to Pain Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993-2019.

Published

2021-07-05

Issue

Vol. 33 No. 3 (2021): Journal of Ayub Medical College Abbottabad

Section

CASE REPORT

License

Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License  CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.

USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.

AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.