sábado, 20 de octubre de 2012

Enfermedad de Menkes y anestesia regional.

Bloqueo bilateral del plano transverso abdominal guiado con ultrasonido en un paciente con enfermedad de Menkes


Bilateral ultrasound transversus abdominis plane block in a patient affected from Menkes disease.
Galante D, Caruselli M, Dones F, Meola S, Russo G, Pellico G, Caso A, Lambo M, Donadei F, Mincolelli G.
University Department of Anesthesia and Intensive Care University Hospital Ospedali Riuniti, Foggia;
Pediatr Rep. 2012 Apr 2;4(2):e23. Epub 2012 Jun 13
Abstract
This case report demonstrates the utility and safety of ultrasound transversus abdominis plane (TAP) block in a paediatric patient suffering from Menkes disease. Anaesthetists, and particularly paediatric and neonatal anaesthetists, have to make a careful assessment of these patients, who are subjected to frequent surgeries, despite their tender years. These operations are often necessary in order to improve the patient's quality of life as much as possible. The choice of anaesthetic technique must take the particular nature of the disease and the patient's medical history into consideration, while careful preparation and preoperative evaluations make it possible to administer the general or local anaesthetic safely. Official literature on the subject does not provide sufficient information about the use of local anaesthetic techniques. Moreover, the use of ultrasound TAP block in patients affected by Menkes disease has never been published in literature. In our experience, ultrasound TAP block has provided positive results, although the rarity of this childhood disease makes a detailed study difficult
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395981/pdf/pr-2012-2-e23.pdf


Enfermedad de Menkes


Menkes disease.
Tümer Z, Møller LB.
Kennedy Centre, Glostrup, Denmark. zet@kennedy.dk
Eur J Hum Genet. 2010 May;18(5):511-8. Epub 2009 Nov 4.

Abstract
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987322/pdf/ejhg2009187a.pdf


Atentamente
Dr. Emrique Hernández-Cortez
Anestesiología y Medicina del Dolor
www.anestesia-dolor.org


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