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 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

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 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 Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

2018 ◽  
Vol 46 (6) ◽  
pp. 2445-2457 ◽  
Author(s):  
Zhenlei Liu ◽  
Jiaqi Liu ◽  
Gang Liu ◽  
Wenjian Cao ◽  
Sen Liu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
In Silico Analysis ◽  
Chinese Patient ◽  
Protein Domain ◽  
Reading Frame ◽  
Severe Intellectual Disability ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Tyrosine Receptor Kinase ◽  
Insensitivity To Pain

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe intellectual disability caused by a homozygous c.851-33T>A mutation of NTRK1, resulting in aberrant splicing and an open reading frame shift. We reviewed the literature and performed in silico analysis to determine the association between mutations and intellectual disability in patients with CIPA. We found that intellectual disability was correlated with the specific Ntrk1 protein domain that a mutation jeopardized. Mutations located peripheral to the Ntrk1 protein do not influence important functional domains and tend to cause milder symptoms without intellectual disability. Mutations that involve critical amino acids in the protein are prone to cause severe symptoms, including intellectual disability.

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