Topical review Congenital insensitivity to pain: an update
نویسندگان
چکیده
Elna M. Nagasako, Anne Louise Oaklander, Robert H. Dworkin* Washington University School of Medicine, St. Louis, MO, USA Nerve Injury Unit, Departments of Anesthesiology, Neurology, and Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Department of Anesthesiology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 604, Rochester, NY 14642, USA
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Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
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Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth fa...
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Congenital insensitivity to pain with anhidrosis is a rare genetic disorder of peripheral nervous system characterised by recurrent episode of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature and self mutilating behavior. We are presenting a eight year old female with CIPA who have pus discharge and pathological fracture of anterior mandible .Sural nerve biopsy r...
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Congenital insensitivity to pain with anhidrosis is a rare disease with an autosomal recessive inheritance. The patients present in early childhood with frequent episodes of fever and absence of sweating. Painless fractures, bruises and cuts are quite common. Defective lacrimation and mental retardation are strongly diagnostic. Repeated injuries often lead to a reduced life expectancy. The diag...
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Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder characterized by insensitivity to pain, anhidrosis (the inability to sweat) and mental retardation. Nerve growth factor (NGF) is a well-known neurotrophic factor essential for the survival and maintenance of NGF-dependent neurons, including primary afferent neurons with thin fibers and sympathetic...
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