scholarly journals Congenital Insensitivity to Pain and Anhidrosis: A painful experience by a painless child

2021 ◽  
Vol 4 (1) ◽  
pp. 4-7
Author(s):  
Sia Ung ◽  
◽  
Zulkiflee Bin Osman ◽  
Nur Syahida Binti Mohd Termizi ◽  
Mohd Firdaus Hafni Bin Ahmad ◽  
...  
Keyword(s):  
Closed Reduction ◽  
Femur Fracture ◽  
Hip Dislocation ◽  
Distal Humerus ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Elastic Nail ◽  
The Right ◽  
Subtrochanteric Femur Fracture ◽  
Insensitivity To Pain

A three-year-old boy with congenital insensitivity to pain and anhidrosis (CIPA) was first presented with transphyseal separation of distal left humerus. Surgical treatment with closed reduction and k-wiring of transphyseal separation of distal humerus resulted in devastating surgical site infection and osteomyelitis. Multiple surgical debridement and application of external fixator to eliminate infection were futile. At the age of four years, he refused to bear weight as a result of left hip dislocation. Closed reduction and spica cast was unsuccessful, resulting in recurrent left hip dislocation. He has since not been able to walk. At the age of five years, the right hip was dislocated followed by ipsilateral subtrochanteric femur fracture. Appropriate treatments such as hip spica and titanium elastic nail were not possible due to extensive bruising and skin ulceration over the right thigh. This child ended up with a functionless left upper limb, bilateral hip dislocation and malunited right femur fracture. Conservative treatment and watchful neglect might be the ideal treatment for patients with CIPA.

scholarly journals Case Report: Neuropathic pain in a patient with congenital insensitivity to pain

F1000Research ◽  
2015 ◽  
Vol 3 ◽  
pp. 135 ◽  
Author(s):  
Daniel W. Wheeler ◽  
Michael C.H. Lee ◽  
E. Katherine Harrison ◽  
David K. Menon ◽  
C. Geoffrey Woods
Keyword(s):  
Neuropathic Pain ◽  
Negative Symptoms ◽  
Subjective Experience ◽  
Pelvic Injuries ◽  
Congenital Insensitivity ◽  
Electric Shocks ◽  
Congenital Insensitivity To Pain ◽  
Painless Labor ◽  
The Right ◽  
Insensitivity To Pain

We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have null mutations of the SCN9A gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both legs and a vice-like squeezing in the pelvis on walking. Quantitative sensory testing showed that sensory thresholds to mechanical stimulation of the dorsum of both feet had increased more than 10-fold on both sides compared with tests performed before her pregnancy. These findings fulfill the diagnostic criteria for neuropathic pain. Notably, she mostly only experiences the negative symptoms (such as numbness and tingling, but also electric shocks), and she has not reported sharp or burning sensations, although the value of verbal descriptors is somewhat limited in a person who has never felt pain before. However, her case strongly suggests that at least some of the symptoms of neuropathic pain can persist despite the absence of the Nav1.7 channel. Pain is a subjective experience and this case sheds light on the transmission of neuropathic pain in humans that cannot be learned from knockout mice.

scholarly journals Case Report: Neuropathic pain in a patient with congenital insensitivity to pain

F1000Research ◽  
2014 ◽  
Vol 3 ◽  
pp. 135 ◽  
Author(s):  
Daniel W. Wheeler ◽  
Michael C.H. Lee ◽  
E. Katherine Harrison ◽  
David K. Menon ◽  
C. Geoffrey Woods
Keyword(s):  
Neuropathic Pain ◽  
Negative Symptoms ◽  
Subjective Experience ◽  
Unique Case ◽  
Pelvic Injuries ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Painless Labor ◽  
The Right ◽  
Insensitivity To Pain

We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have a null mutation of the SCN9a gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both legs and a vice-like squeezing in the pelvis on walking. Quantitative sensory testing showed that sensory thresholds to mechanical stimulation of the dorsum of both feet had increased more than 10-fold on both sides compared with tests performed before her pregnancy. These findings fulfill the diagnostic criteria for neuropathic pain. Notably, she only experiences the negative symptoms (such as numbness and tingling) and she has not reported sharp, burning or electric shock sensations, although the value of verbal descriptors is somewhat limited in a person who has never felt pain before. However, her case strongly suggests that at least some of the symptoms of neuropathic pain can persist despite the absence of the Nav1.7 channel. Pain is a subjective experience and this case sheds light on the transmission of neuropathic pain in humans that cannot be learned from knockout mice.

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 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.

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