scholarly journals Guided growth in the correction of knee deformity in patients with congenital insensitivity to pain

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Soroush Baghdadi ◽  
Sadegh Saberi ◽  
Taghi Baghdadi
Keyword(s):  
Demographic Data ◽  
Joint Destruction ◽  
Walking Ability ◽  
Guided Growth ◽  
Tertiary Referral Hospital ◽  
Common Procedure ◽  
Correction Rate ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Abstract Background Orthopedic manifestations of congenital insensitivity to pain (CIP) can be devastating if left untreated. Knee deformities are common in patients with CIP and might lead to joint destruction and loss of walking ability. The purpose of the present study was to report the results and complications of guided growth procedures around the knee in patients with CIP. Methods In a retrospective review, all patients with CIP who underwent guided growth procedures around the knee from 2009 to 2017 at a tertiary referral hospital were evaluated. Patients with secondary insensitivity to pain (e.g., syringomyelia), as well as patients with incomplete records, were excluded. Demographic data, clinical findings, correction rate, and complications were recorded. Results Ten knees in six patients fulfilled the inclusion criteria. The median age was 10 (range, 5–12), with a mean follow-up of 31 months (range, 16–56). Distal femoral tension-band hemiepiphysiodesis was the most common procedure, followed by proximal tibial hemiepiphysiodesis. The mean correction rate was 0.28°/month for femoral deformity. Staples were removed prematurely in one patient due to extrusion. No cases of infection or skin dehiscence were observed. None of the patients needed a reconstructive knee procedure during the study period. Conclusions The findings of this study suggest that guided growth procedures might have a role in the correction of knee deformities in patients with CIP. However, the correction rate is lower than that of typically developing children, patients should be closely followed to prevent complications, and stringent patient selection criteria should be followed to ensure success.

scholarly journals Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

2021 ◽  
Vol 15 ◽  
Author(s):  
Xiao-hui Xie ◽  
Jian-guang Tang ◽  
Zhong-hua Liu ◽  
Shui-jiao Peng ◽  
Zhuang-zhuang Yuan ◽  
...  
Keyword(s):  
Sodium Current ◽  
Systemic Disease ◽  
Joint Destruction ◽  
Hek293 Cells ◽  
Loss Of Function ◽  
Charcot Neuroarthropathy ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Tissue Trauma ◽  
Insensitivity To Pain

Charcot neuroarthropathy is a systemic disease with pathological changes in the musculoskeletal system, which leads to fractures, dislocations, and deformities involving multiple bones and joints, particularly those of the feet. While the common underlying cause of Charcot neuroarthropathy is diabetes mellitus, it is also associated with congenital insensitivity to pain (CIP). CIP is a rare disorder caused by loss-of-function mutations in SCN9A encoding Nav1.7. In this study, we report a patient with CIP from a consanguineous family susceptible to Charcot neuroarthropathy with a novel SCN9A mutation. This report involves the case of a middle-aged man who suffered from CIP, had repeated painless fractures, and developed bone and joint destruction. The physical and radiological examinations revealed that multiple joints were swollen and deformed, and soft-tissue trauma was evident. We identified a novel homozygous SCN9A mutation (p.Cys1339Arg) by whole-exome sequencing (WES), which was verified using Sanger sequencing. In addition, the wild-type (WT) and mutated p. Cys1339Arg were assessed in HEK293 cells expressing Nav1.7, and the results showed that p. Cys1339Arg almost abolished the Nav1.7 sodium current. In conclusion, Charcot neuroarthropathy associated with CIP demonstrated a wider spectrum of Charcot neuroarthropathy than was previously recognized or documented. In addition, this finding is conducive to understanding the critical amino acids for maintaining the function of Nav1.7, thus contributing to the development of Nav1.7-targeted analgesics.

scholarly journals Unilateral lytic changes over the weight-bearing joint causing severe destruction of ankle joint (atypical Charcot joint) in a girl with congenital insensitivity to pain without anhidrosis (hereditary sensory and autonomic neuropathy type V): Case report and literature review

2019 ◽  
Vol 7 (1) ◽  
pp. 81-86
Author(s):  
Ali Al Kaissi ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Ankle Joint ◽  
Autonomic Neuropathy ◽  
Treatment Plan ◽  
Joint Destruction ◽  
Autonomic Nerve ◽  
Congenital Insensitivity ◽  
Joint Dislocations ◽  
Tarsal Bones ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Background. The presence of Charcot arthropathies, joint dislocations, infections and fractures in a child without evidence of neurological abnormality should give rise to a suspicion of congenital insensitivity to pain (hereditary sensory and autonomic neuropathy). Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome characterized by congenital insensitivity to pain, temperature changes and by autonomic nerve formation disorders. HSAN is classified into five types: sensory radicular neuropathy (HSAN I), congenital sensory neuropathy (HSAN II), familial dysautonomia or Riley Day Syndrome (HSAN III), congenital insensitivity to pain with anhidrosis (HSAN IV) and congenital indifference to pain (HSAN V). Case presentation. A 13-year old girl first product of a non-consanguineous marriage, presented with malunion of successive fractures or Charcots ankle joint destruction on top of significant lytic changes/osteonecrosis. The patient had sustained many painless injuries resulting in fractures with subsequent disfiguremnt of her ankle joint. Arthropathy of the knees, ankles, tarsal bones and feet without pain associated with obvious changes in the shape of the ankle joint were present. Despite a normal sense of touch in our patient the indifference to pain made her extremely susceptible to breakdown of the skin over the ankle osseous prominences. Conclusion. Generally speaking, the orthopaedic management of such patients is extremely difficult since these patients do not restrict the movements of the involved extremity as they lack the inhibitory pain reflex. Interestingly, our attempts for surgical stabilisation of the ankle joints were succsessfull and eventually the girl became able to walk. It is important to anticipate patient and parent education in joint protection and surveillance for injury as the most important component of the treatment plan for these children. We might postulate that the degree of osteolysis of the ankle joint in our present child might be a form of secondary osteolysis.

scholarly journals Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Nonsense Mutation ◽  
Mutation Screening ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Site Mutation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron–exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.

NovelNTRK1mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies

2017 ◽  
Vol 22 (2) ◽  
pp. 92-99 ◽  
Author(s):  
Tai-Seung Nam ◽  
Wenting Li ◽  
Somy Yoon ◽  
Gwang Hyeon Eom ◽  
Myeong-Kyu Kim ◽  
...  
Keyword(s):  
Functional Studies ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

scholarly journals Congenital Insensitivity to Pain with Multiple Fractures: A Case Report and Literature Review

2021 ◽  
Vol 10 (03) ◽  
pp. 1-4
Author(s):  
Pan Zhou ◽  
Chao Liu ◽  
Jinpei Yang ◽  
Shuai Zheng ◽  
Xueshi Li ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Multiple Fractures ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain
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