2017, Number 1
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Rev Hosp Jua Mex 2017; 84 (1)
Congenital pain insensitivity syndrome and anhidrosis: clinical case
Navarrete-Enríquez AD, Panzeri-Piras M, Moctezuma-Ramírez L
Language: Spanish
References: 10
Page: 48-52
PDF size: 258.11 Kb.
ABSTRACT
Congenital pain insensitivity and anhidrosis is an autosomal recessive hereditary syndrome due to the mutation of the NTRK1 gene (neurotrophic tyrosine receptor kinase 1), which is located in the long arm of chromosome 1 (1q21-22) and is responsible for encoding a tyrosine kinase domain of nerve growth factor, which conditions autonomic dysfunction and sensory loss. We present a case of this rare disease and the experience with its anesthetic management.
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