Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature

Wu, Rui; Liu, Yi; Zhou, Yiyi; Wang, Jiaying; Xu, Zhujie; Chen, Sha-Yang; Wang, Qi‐Qi; Yuan, Peng

doi:10.12998/wjcc.v6.i14.836

Cited by 4 publications

(5 citation statements)

References 9 publications

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“…The table of results is shown below (Table 4). Notably, researchers such as Wang et al have elucidated the pivotal role played by bone and joint abnormalities in the diagnostic process, particularly in cases correlated with anhidrosis stemming from mutations in the NTRK1 gene [1,10]. While conservative therapeutic approaches, as proposed by Yu et al, have exhibited promise, their suitability may not universally apply, as exemplified by Hartono et al in a clinical instance where open joint reductions yielded suboptimal results [12,13].…”

Section: Results Tablementioning

confidence: 99%

“…This prevalence can be ascribed to the NRTK1 mutation, which is most associated with this specific subtype. In fact, Wang et al have meticulously documented over 105 distinct mutations at this locus in CIPA patients [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Wang et al [10] Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature 6…”

Section: Authormentioning

confidence: 99%

“…When the mutation is located at the core of the associated protein, cognitive impairments tend to be more pronounced. In other words, the location of the genetic mutation within the responsible gene seems to be correlated with the degree of cognitive impairment observed in individuals with CIPA [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

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A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease

Rodríguez-Blanque,

Nielsen,

Piqueras-Sola

et al. 2024

JPM

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Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival. Objective: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. Methodology: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. Results: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. Conclusions: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.

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Section: Results Tablementioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Wang et al [10] Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature 6…”

Section: Authormentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease

Rodríguez-Blanque,

Nielsen,

Piqueras-Sola

et al. 2024

JPM

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“…Because of their insensitivity to pain, patients often show self-harm behaviors occurring in the soft tissues of the hands, lips and tongue [19]. In addition, patients are prone to repeated painless fractures and joint dislocations [20,21]. Patients may still have psychomotor retardation, with an IQ of about 60 [22].…”

Section: Discussionmentioning

confidence: 99%

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

Sha¹,

Xu²,

Zhai³

et al. 2020

Preprint

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Objective : Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessively inherited disorder characterized by insensitivity to noxious stimuli and inability to sweat. Methods : In this case report, an 18-year-old Chinese boy diagnosed with CIPA with the clinical features of loss of algesthesis, inability to sweat, self-mutilation, developmental delay and dislocation of the left hip joint. Blood samples from the patient was collected and subjected to genetic analysis. Results : Sequencing analysis revealed a novel mutation, c.1769A>G, in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). In silico studies suggested that the mutations described are detrimental to the function of the protein encoded by the NTRK1 gene. Conclusions : The novel mutation widen the genetic mutation spectrum of NTRK1 in CIPA patients, and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.

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A 10-year follow-up of asymptomatic Charcot hip joints caused by CIPA syndrome (congenital insensitivity to pain with anhidrosis) with failure of any surgical reconstructive treatment

Delniotis

Leidinger

2019

Journal of Surgical Case Reports

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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder. Patients with CIPA lack among other things the protective sensation of pain. Orthopaedic manifestations are fractures, infections and hip joint dislocation. We report a 10-year follow-up of late developing hip dysplasia with CIPA and the result of several reconstructive surgical procedures. The final outcome was asymptomatic Charcot hip joints with superior migration and dislocation of both hips without pain. In conformance with the literature standard operative techniques in these rare cases usually seem to fail. A multidisciplinary conservative approach with close observation and activity modification is the proposed treatment of choice.

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Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature

Cited by 4 publications

References 9 publications

A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease

A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

A 10-year follow-up of asymptomatic Charcot hip joints caused by CIPA syndrome (congenital insensitivity to pain with anhidrosis) with failure of any surgical reconstructive treatment

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