Congenital Insensitivity to Pain with Anhidrosis (CIPA) Manifested with Chronic Osteomyelitis; A Case Report
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منابع مشابه
Congenital Insensitivity to Pain with Anhidrosis (CIPA): A Case Report
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed wit...
متن کاملCongenital insensitivity to pain with anhidrosis: a case report.
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.
متن کاملA Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA)
Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory autonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomal recessive disorder initially described by Swanson in 1963. We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran. The symptoms included recurrent episodes of hyperthermia and unexplained fever that began in earl...
متن کاملCongenital 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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ژورنال
عنوان ژورنال: Journal of Clinical and Analytical Medicine
سال: 2015
ISSN: 1309-0720,1309-2014
DOI: 10.4328/jcam.912