Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey [PDF]
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features include anhidrosis,
Tomoyasu Higashimoto +4 more
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Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self‐Injury Complications in a 5‐Year‐Old Boy: A Case Report [PDF]
Clinical Case ReportsCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such
Zubair Amin +7 more
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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature [PDF]
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho +13 more
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Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis [PDF]
Case Reports in Anesthesiology, 2018 A patient with congenital insensitivity to pain with anhidrosis (CIPA) underwent revision of total hip arthroplasty under general anesthesia with only propofol.
Yuki Sugiyama +4 more
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Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Basic and Clinical Neuroscience, 2013 Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose their feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene ...
Nasrollah Saleh-gohari +1 more
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Congenital insensitivity to pain with anhidrosis [PDF]
International Orthopaedics, 1998 We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.
Herdem, M +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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A Case Report of Congenital Insensitivity to Pain with Anhidrosis
罕见病研究, 2023 Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options.
JIAO Yuhao, TIAN Ye, CAI Siyi
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Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis [PDF]
Frontiers in GeneticsObjectivesCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder caused by mutations in NTRK1 that is characterized by pain insensitivity, anhidrosis, and recurrent fever. While genetic testing is the gold standard
Xin Chen +9 more
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Congenital Insensitivity to Pain (HSNA type IV)
Pediatric Neurology Briefs, 2015 Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched ...
J Gordon Millichap
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