Congenital insensitivity to pain with anhidrosis: a case report from Pakistan and literature review
نویسندگان
چکیده
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 diagnosis depends on relevant clinical features, abnormal sensory response on nerve conduction studies and nerve biopsy showing loss of the unmyelinated and small myelinated fibers. We report here a 5 year old female child who presented for electrodiagnostic evaluation and was found to have this disease.
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...
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