Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report [PDF]
BMC Pediatrics, 2022 Background In this case report, we described the past history, clinical manifestations, genetic characteristics and cognitive evaluation of a boy with congenital insensitivity to pain with anhidrosis (CIPA) who developed autism spectrum disorder (ASD ...
Mi Zhang +4 more
doaj +2 more sources
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports [PDF]
Journal of Medical Case Reports, 2017 Background Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability.
Cong Wang +4 more
doaj +2 more sources
Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome [PDF]
VisionBackground: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker +10 more
doaj +2 more sources
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report [PDF]
BMC Medical Genomics, 2020 Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by insensitivity to pain, inability to sweat and intellectual disability.
Andrés López-Cortés +12 more
doaj +2 more sources
Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia [PDF]
The Ewha Medical JournalPatients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity.
Amaal Aldosari +4 more
doaj +2 more sources
Anesthetic management of children with congenital insensitivity to pain with anhidrosis. [PDF]
Pediatr Investig, 2020 ABSTRACTIntroductionCongenital analgesia is a rare autosomal recessive hereditary disease. The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentationA 1‐year‐old Han Chinese boy was admitted to hospital because of a tongue bite.
Qiu Y, Zhao L, Yao D, Jia Y.
europepmc +4 more sources
A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease [PDF]
Journal of Personalized MedicineIntroduction: 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 ...
Raquel Rodríguez Blanque +2 more
exaly +3 more sources
Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up [PDF]
Dentistry JournalBackground: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral ...
Almoataz B. A. T. Abdel-bari +3 more
doaj +2 more sources
Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management [PDF]
Case Reports in Dentistry, 2015 This paper reports the case of a 4-year-old male patient who was brought by parents requesting for replacement of multiple missing anterior teeth. The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown
N. Abdullah +2 more
doaj +4 more sources
Novel mutations in Chinese patients with congenital insensitivity to pain with anhidrosis [PDF]
Molecular Pain, 2018 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (
Xingzhu Geng +7 more
doaj +2 more sources