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 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 Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

2021 ◽  
Vol 0 ◽  
pp. 1-5
Author(s):  
Omar Ali Batouk ◽  
Mohammed Marzoog Almutairi ◽  
Majd Amjed Saemaldahar ◽  
Badr Zuhair Ambon
Keyword(s):  
Multiple Fractures ◽  
Causative Gene ◽  
Type Iv ◽  
Congenital Insensitivity ◽  
Walking Aids ◽  
Joint Dislocations ◽  
Charcot Joints ◽  
Congenital Insensitivity To Pain ◽  
Tyrosine Receptor Kinase ◽  
Insensitivity To Pain

Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive condition affecting various tracts in the peripheral and autonomic nervous system. CIPA has an incidence of 1/125,000,000. The only known causative gene to date is neurotrophic tyrosine receptor kinase 1 (NTRK1), which is located on chromosome 1q21-q22. The mutation in the NTRK1 gene is associated with consanguineous marriages. Manifestations of this condition are highly variable, with insensitivity to pain being the mainstay. Patients are commonly presented with bruises, joint dislocations, multiple fractures, oral manifestations, and disfigured joints. We present a rare case of a CIPA patient manifested with Charcot’s joints. A 15-year-old male presented with multiple destructed joints in both knees, ankles, and wrists. He uses walking aids and has a loss of response to painful stimuli. The condition started at the age of 7 years. Other manifestations were fever, anhidrosis, mental retardation, and self-mutilating behaviors. The parents have a consanguineous marriage. Nerve and muscle biopsies were obtained and revealed no significant pathological abnormalities. However, imaging showed grossly disorganized joints and the clinical diagnosis of CIPA was confirmed. As illustrated in this case, the occurrence of CIPA syndrome, hereditary sensory and autonomic neuropathy Type IV, remains highly unprecedented and genetic testing is mandatory for the diagnosis. In addition, nerve and muscle biopsy should be obtained, and advanced imaging such as magnetic resonance imaging is needed to evaluate the case fully. There is no definitive therapeutic intervention for this condition, therefore, education and prevention are important to improve the quality of life of a CIPA patient.

scholarly journals Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report

2018 ◽  
Vol 65 (3) ◽  
pp. 181-186
Author(s):  
Shamit Prabhu ◽  
Kevin Fortier ◽  
Lisa Newsome ◽  
Uday N. Reebye
Keyword(s):  
General Anesthesia ◽  
Autonomic Neuropathy ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Hospital Setting ◽  
Temperature Sensation ◽  
Type Iv ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an exceptionally rare genetic disorder that results in the complete loss of pain and temperature sensation as well as anhidrosis. Anesthetic management of these patients can be difficult because of significantly increased risks during general anesthesia. Literature on perioperative anesthetic management is typically written in the context of a hospital setting. As such, our case presents a unique report on the anesthetic management of a HSAN IV patient who presented for extraction of 2 teeth in an office-based setting. In determining how to safely manage the procedure, we decided against general anesthesia as we lacked the facilities and equipment to safely handle previously reported complications. We were successful in providing sedation with nitrous oxide in oxygen and applying 20% benzocaine topical ointment on the surgical site in lieu of administering general anesthesia. We had an anesthesiologist present and obtained intravenous access prior to the surgery to help manage any complications. This report provides support that simple dental extractions can be accomplished safely in the HSAN IV patient in the office-based setting, thereby avoiding unnecessary risk.

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 Oral Management of Hereditary Sensory and Autonomic Neuropathy Type V: A Rare Case Report

2021 ◽  
Vol 5 (2) ◽  
Keyword(s):  
Autonomic Neuropathy ◽  
Autosomal Recessive ◽  
Self Mutilation ◽  
Congenital Insensitivity ◽  
Different Types ◽  
Rare Case Report ◽  
Congenital Insensitivity To Pain ◽  
Type V ◽  
Insensitivity To Pain ◽  
Rare Autosomal Recessive Disease

Hereditary sensory and autonomic neuropathies (HSAN) are rare diseases. Five different types are described. Hereditary sensory and autonomic neuropathy type V, also known as congenital insensitivity to pain, is a rare autosomal recessive disease seen in early childhood. Self-mutilation is an invariable feature of this disorder involving the teeth, tongue, lips, and fingers. This report described the case of a 2-year-old baby boy who had self-mutilating injuries to her tongue and hands, caused by biting. Protective splints were given to the patient to prevent further self-mutilation.

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