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 Congenital insensitivity to pain with anhidrosis: a case report

1999 ◽  
Vol 14 (4) ◽  
pp. 460 ◽  
Author(s):  
Joon Sung Kim ◽  
Young Jong Woo ◽  
Geun Mo Kim ◽  
Chan Jong Kim ◽  
Jae Sook Ma ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

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.

Congenital Insensitivity to Pain and Anhidrosis: A Case Report and Review

2021 ◽  
pp. 121-133
Author(s):  
L. M. Pérez-López ◽  
M. Cabrera-González ◽  
D. Gutiérrez-de la Iglesia ◽  
S. Ricart
Keyword(s):  
Case Report ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain
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