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Congenital Insensitivity to Pain Due to a De Novo L369P Mutation in the SCN11A Gene with Heterotrophic Ossification - A Case Report

Overview
Journal J Orthop Case Rep
Specialty Orthopedics
Date 2023 Sep 1
PMID 37654749
Authors
Gabriel Makar
Sundeep Kahlon
Mark Seeley
Affiliations
Soon will be listed here.
Abstract

Introduction: A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after contraction release. This is the first report to describe a patient with this specific mutation and subsequent clinical course.

Case Report: A male child with CIP due to de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures. The patient underwent bilateral hip contracture releases to improve his standing ability after failure of conservative treatment. In the coming months he developed significant heterotopic ossification that eventually bridged from the left pelvis to the left femur.

Conclusion: Heterotrophic ossification (HO) in patients with CIP is a rare and poorly understood clinical manifestation. Our report describes a rare and aggressive manifestation of HO in a patient with CIP.

References
1.
King M, Leipold E, Goehringer J, Kurth I, Challman T . Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot. Neurogenetics. 2017; 18(3):179-181. DOI: 10.1007/s10048-017-0513-9. View
2.
Spiteri M, Mifsud M, Azzopardi T, Giele H . Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain. Hand (N Y). 2020; 17(1):155-161. PMC: 8721796. DOI: 10.1177/1558944720906556. View
3.
Hill E, Elde R . Distribution of CGRP-, VIP-, D beta H-, SP-, and NPY-immunoreactive nerves in the periosteum of the rat. Cell Tissue Res. 1991; 264(3):469-80. DOI: 10.1007/BF00319037. View
4.
Kan L, Lounev V, Pignolo R, Duan L, Liu Y, Stock S . Substance P signaling mediates BMP-dependent heterotopic ossification. J Cell Biochem. 2011; 112(10):2759-72. PMC: 3508732. DOI: 10.1002/jcb.23259. View
5.
Perez-Lopez L, Cabrera-Gonzalez M, Gutierrez-de la Iglesia D, Ricart S, Knorr-Gimenez G . Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. Case Rep Pediatr. 2015; 2015:589852. PMC: 4633556. DOI: 10.1155/2015/589852. View