Indian J Orthop. 2019 Sep-Oct;53(5):665-673. doi: 10.4103/ortho.IJOrtho_378_18.
The Orthopedic Manifestations of Congenital Insensitivity to Pain: A Population-based Study.
Indian journal of orthopaedics
Maximillian Mifsud, Michelle Spiteri, Karl Camilleri, Matthew Bonello, Thomas Azzopardi, Massimo Abela
Affiliations
Affiliations
- Department of Trauma and Orthopaedics, Nuffield Orthopaedic Centre, Oxford, UK.
- Department of Trauma and Orthopaedics, Mater Dei Hospital, Msida, Malta.
PMID: 31488938
PMCID: PMC6699213 DOI: 10.4103/ortho.IJOrtho_378_18
Abstract
BACKGROUND: Congenital insensitivity to pain (CIP) is an extremely rare condition in which there is a failure of the development of the afferent sensory nerves in the dorsal root ganglia resulting in indifference to painful stimuli. The associated orthopedic manifestations are various and often present a diagnostic quandary for the treating surgeon.
PURPOSE: This population study provides insight into the orthopedic manifestations and functional scores in patients with CIP, to guide prognosis and management.
PATIENTS AND METHODS: We retrospectively review and describe the orthopedic manifestations of all cases of CIP in Malta. All patients were then scored for upper and lower limb function using the abridged version of the Disability of Arm, Shoulder, and Hand score (QuickDASH) and the Lower Extremity Functional Score (LEFS).
RESULTS: Nine patients were recruited in total. Mean age at the time of recruitment into this study was of 33.7 years (range 15-58). All patients were Caucasian of Maltese heritage. None had consanguineous parents. All patients had been diagnosed with the condition in childhood (mean age 8.9 years). In total, these patients had 6 long bone fractures, 1 vertebral fracture, 39 upper limb surgical procedures, 88 lower limb surgical procedures, and 7 major lower limb amputations. These are discussed in detail. The main QuickDASH score was 23.97. The main LEFS was 42.22.
CONCLUSIONS: This paper is the first population-based study of this condition and one of the largest series with functional scores. A multidisciplinary approach is essential in managing these patients. The surgical treatment of these conditions is often difficult and protracted, and judicious and careful consideration to both the bony and soft tissues aspects of the management need to be taken into account, with functional limb amputation not necessarily being considered as a last resort.
Keywords: Amputation; congenital insensitivity to pain; osteomyelitis; pediatrics
Conflict of interest statement
Each author certifies that he/she has no commercial associations (e.g. consultancies, stock ownership, equity interest, and patent/licensing arrangements) that might pose a conflict of interest in con
References
- Phys Ther. 1999 Apr;79(4):371-83 - PubMed
- Clin Neurophysiol. 2000 Sep;111(9):1596-601 - PubMed
- J Bone Joint Surg Br. 2002 Mar;84(2):252-7 - PubMed
- Arch Neurol. 1963 Mar;8:299-306 - PubMed
- Arch Neurol. 1965 Jan;12:12-8 - PubMed
- J Clin Immunol. 2004 Jul;24(4):441-8 - PubMed
- Lancet. 2005 Apr 2-8;365(9466):1259-70 - PubMed
- J Bone Joint Surg Am. 2005 May;87(5):1038-46 - PubMed
- Scand J Plast Reconstr Surg Hand Surg. 2005;39(3):180-3 - PubMed
- Cell Tissue Res. 1991 Jun;264(3):469-80 - PubMed
- Orphanet J Rare Dis. 2007 Oct 03;2:39 - PubMed
- J Pediatr Orthop. 2009 Jan-Feb;29(1):91-7 - PubMed
- J Child Neurol. 2010 Dec;25(12):1548-51 - PubMed
- Iran J Pediatr. 2012 Sep;22(3):412-6 - PubMed
- PLoS One. 2013 Jun 14;8(6):e66863 - PubMed
- Pediatrics. 2014 May;133(5):e1381-7 - PubMed
- Injury. 2014 Nov;45(11):1759-63 - PubMed
- J Orthop Sci. 2014 Sep;19(5):827-31 - PubMed
- Case Rep Pediatr. 2015;2015:589852 - PubMed
- J Orthop Sports Phys Ther. 2016 Mar;46(3):200-16 - PubMed
- Childs Nerv Syst. 2016 Sep;32(9):1741-4 - PubMed
- J Hand Ther. 2017 Jan - Mar;30(1):30-40.e2 - PubMed
- Orthopedics. 1987 Jan;10(1):163-72 - PubMed
- Acta Neuropathol. 1981;54(3):199-202 - PubMed
- J Pediatr Orthop. 1994 Mar-Apr;14(2):258-62 - PubMed
- Pediatr Neurol. 1994 Jul;11(1):50-6 - PubMed
- Nat Genet. 1996 Aug;13(4):485-8 - PubMed
- Jpn J Hum Genet. 1997 Jun;42(2):343-51 - PubMed
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