Anesthetic management of children with congenital insensitivity to pain with anhidrosis. [PDF]
Pediatr Investig, 2020 ABSTRACT Introduction Congenital analgesia is a rare autosomal recessive hereditary disease. The primary damage of congenital analgesia is central structure damage of comprehensive pain perception. Case presentation A 1‐year‐old Han Chinese boy was admitted to hospital because of a tongue bite.
Qiu Y, Zhao L, Yao D, Jia Y.
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Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis [PDF]
Frontiers in Genetics, 2021 Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene.
Kai Yang +10 more
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Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study. [PDF]
Pediatr DermatolABSTRACT Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by the loss of sensation to pain and absence of sweating with one case report linking this with harlequin color change.
Maazi M, Lam JM.
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Anesthetic management of a patient with congenital insensitivity to pain with anhidrosis by coadministration of remifentanil [PDF]
JA Clinical Reports, 2018 Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease characterized by unexplained fever, systemic insensitivity to pain, anhidrosis, and mental distress.
Yoko Takeuchi +5 more
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A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report [PDF]
Journal of Medical Case ReportsBackground Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1).
Anders Kjellberg +3 more
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Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
Indian Journal of Paediatric Dermatology, 2021 Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout +3 more
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Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis [PDF]
Frontiers in Pediatrics, 2021 Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability.
Lulu Li +5 more
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Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis [PDF]
Case Reports in Pediatrics, 2015 Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome.
L. M. Pérez-López +4 more
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Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report [PDF]
Frontiers in Medicine, 2022 We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer.
Rong Zhu +3 more
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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
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