Congenital Insensitivity to Pain Syndrome with Anhidrosis. Review of Literature
نویسندگان
چکیده
منابع مشابه
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...
متن کاملCongenital Insensitivity to Pain with Anhidrosis: A Review of Literature and Case Report
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...
متن کاملA case of congenital insensitivity to pain with anhidrosis.
Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth and extremities, self-harm behavior, mild to severe mental r...
متن کاملCongenital insensitivity to pain with anhidrosis: a case report from Pakistan and literature review
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...
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.
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ژورنال
عنوان ژورنال: Journal of Pediatrics and Pediatric Medicine
سال: 2018
ISSN: 2578-2940
DOI: 10.29245/2578-2940/2018/4.1126