Navarrete-Enríquez AD, Panzeri-Piras M, Moctezuma-Ramírez L

Idioma: Español
Referencias bibliográficas: 10
Paginas: 48-52
Archivo PDF: 258.11 Kb.

RESUMEN

La insensibilidad congénita al dolor y anhidrosis es un síndrome hereditario de tipo autosómico recesivo debido a la mutación del gen NTRK1 (neurotrophic tyrosine receptor kinase 1), que se localiza en el brazo largo del cromosoma 1 (1q21-22) y es responsable de codificar un dominio tirosin-quinasa del factor de crecimiento nervioso, que condiciona disfunción autonómica y pérdida sensorial. Presentamos un caso de esta rara enfermedad y la experiencia con su manejo anestésico.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Oliveira CR, Paris VC, Pereira RA, Lara FS. Anestesia em paciente com insensibilidade congênita a dor e anidrose. Rev Bras Anestesiol 2009; 59(5): 602-9.

2. Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, et al. The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth 2004; 14(4): 344-8.

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5. Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, et al. The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth 2004; 14(4): 344-8.

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10. Jarade EF, El-Sheikh HF, Tabbara KF. Indolent corneal ulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literature review. Eur J Ophthalmol 2002; 12(1): 60-5.