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Acta Médica Costarricense
versión On-line ISSN 0001-6002versión impresa ISSN 0001-6012
Resumen
ACOSTA-GUALANDRI, Alejandra y BOGANTES-LEDEZMA, Sixto. Hereditary sensory and autonomic neuropathy. Acta méd. costarric [online]. 2014, vol.56, n.2, pp.81-84. ISSN 0001-6002.
Congenital insensitivity to pain is a rare childhood disorder. Five different types of hereditary sensory and autonomic neuropathy have been identified to date, each one with diverse clinical features. We report the clinical case of a 10-year-old boy, diagnosed with hereditary sensory and autonomic neuropathy type IV, an autosomal recessive condition. This disease is characterized by insensitivity to pain and temperature, anhidrosis, self-mutilation and mental retardation. Anhidrosis leads to thermoregulation disorders, which might cause episodes of fever and insensitivity to pain associated with recurring fractures and joint damage.
Palabras clave : autonomic neuropathy; anhidrosis; self-mutilation; insensitivity to pain.