ENGLISH

Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA)

Book information

Language
english
Format
PDF
Filesize
733 kB (750606 bytes)
Pages
\4
Topic
Medicine Neurology
Library
twirpx
Time added
2017-08-07 07:01:42

Description

Статья. Опубликована в Iranian Journal of Child Neurology, 2012; 6(3). P: 45-48.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 early infancy, anhidrosis (inability to sweat), profound loss of pain sensitivity, neurodevelopmental delay, unconscious self-mutilation of fingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painful fracture and joint deformities in the right ankle. Tearing, deep tendon reflexes and motor and sensory nerve action potentials were normal.

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