scholarly journals Painless: a case of congenital insensitivity to pain in a 5-year-old male

2020 ◽  
Vol 2020 (7) ◽  
Author(s):  
H H Al Amroh ◽  
A L Reyes ◽  
J Barret Austin Hillary ◽  
W H Al Khaffaf
Keyword(s):  
Child Abuse ◽  
Genetic Disorders ◽  
Occurrence Rate ◽  
Congenital Insensitivity ◽  
History Of ◽  
Congenital Insensitivity To Pain ◽  
The One ◽  
Recurrent Injuries ◽  
Insensitivity To Pain

Abstract Background: several genetic disorders are known to be associated with congenital insensitivity to pain (CIP), a term often used to describe an impaired ability to perceive the type, intensity and quality of noxious stimuli. Children with CIP often injure themselves severely. The injury can go unnoticed or be misdiagnosed as child abuse because it is associated with multiple and recurrent injuries which may result in permanent damage. Patient findings: we report the case of a 5-year-old boy with a history of showing no signs of pain when exposed to accidental injuries such as trauma, burns or secondary chronic lesions. Conclusion: child abuse has a much higher occurrence rate than rare neuropathies such as the one we describe. However, CIP should be considered as a diagnosis in any child presenting with a history of poor or absent responses to painful stimuli.

scholarly journals Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?

2017 ◽  
Vol 06 (04) ◽  
pp. 238-240 ◽  
Author(s):  
Maha Abouzaid ◽  
Manal Thomas ◽  
Ghada El-Kamah ◽  
Mostafa Mostafa
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Pain Sensation ◽  
Early Loss ◽  
Congenital Insensitivity ◽  
Palmoplantar Hyperkeratosis ◽  
Affected Sibling ◽  
History Of ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

AbstractPapillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.

scholarly journals Understanding the genetic basis of congenital insensitivity to pain

2020 ◽  
Vol 133 (1) ◽  
pp. 65-78 ◽  
Author(s):  
Ichrak Drissi ◽  
William Aidan Woods ◽  
Christopher Geoffrey Woods
Keyword(s):  
Genetic Basis ◽  
Genetic Disorders ◽  
Endogenous Opioids ◽  
Journal Articles ◽  
Intracellular Signalling Pathways ◽  
Voltage Gated Sodium Channels ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain ◽  
Increased Susceptibility

Abstract Introduction or background Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe consequences of painlessness. Although only a small number of causative conditions and genes are known, most have led to profound insights into human nociception. CIP gene discovery is catalyzing the manufacture of completely new classes of analgesics, and these are needed as alternatives to synthetic highly potent opioids. Sources of data Pubmed.gov peer-reviewed journal articles and reviews. Areas of agreement The importance of nerve growth factor-tropomyosin receptor kinase A (NGF-TRKA) signalling for nociceptor genesis and subsequent pain sensing. New analgesics can be generated from knowledge of the NGF-TRKA nociceptor pathway. Increased susceptibility to Staphylococcus aureus infection is a consequence of deficient NGF-TRKA signalling. Mutations in the voltage-gated sodium channels SCN9A and SCN11A can cause congenital painlessness, and in contradistinction, other mutations can cause episodic neuropathic pain. SCN9A/Nav1.7 is an analgesic target. SCN11A/Nav1.9 is unlikely to be an analgesic target. There are further Mendelian causes of painlessness to be discovered. Areas of controversy Which NGF-TRKA intracellular signalling pathways operate in nociceptor development and which in post-natal pain sensing? Why have no clinically effective Nav1.7 antagonist been generated? SCN9A-CIP causes analgesia, at least in part, through endogenous opioids. Why do all CIP phenotypes involve a complete loss of all types of nociception? Areas timely for developing research PRDM12 as an analgesic target. Discovery of the function and analgesic potential of new CIP genes. Can NGF-TRKA be used in the treatment of S. aureus?

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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