Resumen

ALBUJA ECHEVERRIA, Byron Orlando; ALVEAR LOZANO, Mayra Bersabeth  y  ORDONEZ PAREDES, Carla Patricia. Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report. Arch. argent. pediatr. [online]. 2014, vol.112, n.5, pp.e200-e205. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2014.e200.

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.

Palabras clave : Congenital; Sensory loss; Pain; Anhidrosis.

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