title: [Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report].
abstract: The congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.
authors.affiliation: Hospital Asdrúbal de la Torre, Cotacachi, Ecuador.
authors.forename: Byron Orlando
authors.initials: BO
authors.lastname: Albuja Echeverría
authors.affiliation: Hospital Asdrúbal de la Torre, Cotacachi, Ecuador.
authors.forename: Mayra Bersabeth
authors.initials: MB
authors.lastname: Alvear Lozano
authors.affiliation: Hospital Asdrúbal de la Torre, Cotacachi, Ecuador.
authors.forename: Carla Patricia
authors.initials: CP
authors.lastname: Ordóñez Paredes
mesh_terms: D002675:Child, Preschool; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000175:diagnosis; D006801:Humans