نتایج جستجو برای: congenital insensitivity to pain

تعداد نتایج: 10730988  

Journal: :iranian journal of child neurology 0
mehran karimi associate professor of pediatrics, department of pediatrics, shahid sadoughi university of medical sciences, yazd, iran razieh fallah

how to cite this article: karimi m, fallah r. a case report of congenital insensitivity to pain and anhidrosis (cipa). iran j child neurol 2012; 6(3): 45-48.   congenital insensitivity to pain and anhidrosis (cipa) or hereditary sensoryautonomic neuropathies type iv (hsan type iv) is an extremely rare autosomalrecessive disorder initially described by swanson in 1963.we report a 2.5-year-old bo...

Journal: :Journal of the Royal Society of Medicine 1991

Marzye Mohammadi-Anaie, Nasrollah Saleh-gohari,

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...

Journal: :Archives of Plastic Surgery 2016

Journal: :Journal of Pediatric Neurosciences 2012

Journal: :iranian journal of child neurology 0
mohaddeseh azadvari 1. specialist of physical medicine and rehabilitation, department of physical medicine and rehabilitation, tehran university of medical sciences, tehran, iran seyedeh zahra emami razavi 1. specialist of physical medicine and rehabilitation, department of physical medicine and rehabilitation, tehran university of medical sciences, tehran, iran shahrbanoo kazemi 1. specialist of physical medicine and rehabilitation, department of physical medicine and rehabilitation, tehran university of medical sciences, tehran, iran

how to cite this article: azadvari m, emami razavi sz, kazemi sh. hereditary sensory and autonomic neuropathy type iv in 9 year old boy: a case report. iran j child neurol. spring 2016; 10(2):83-85. abstract objective the hereditary sensory and autonomic neuropathy (hsan) is a rare group of neuropathies that affects the sensory and autonomic nervous system. the patients do not have the ability ...

Journal: :Acta orthopaedica. Supplementum 2006
Jan K Minde

Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical regio...

2011
Smael Labib Mohamed Adnane Berdai Sanae Abourazzak Mustapha Hida Mustapha Harandou

Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivit...

Journal: :Journal of the Royal Society of Medicine 2001

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