Manejo anestésico de un niño con déficit de acetil-coA deshidrogenasa de cadena corta / Anesthetic management of a child with deficit of chain short acetyl-coA dehydrogenase

Los errores innatos del metabolismo de la betaoxidación de los ácidos grasos (déficit de acil-CoA deshidrogenasas) constituyen un nuevo grupo de enfermedades. El déficit de SCAD (Acil-CoA deshidrogenasa de ácidos grasos de cadena corta) es un fallo congénito de herencia autosómica recesiva de la oxidación mitocondrial de los ácidos grasos de cadena corta. Su incidencia probablemente esté subestimada, debiéndose tener un alto índice de sospecha diagnóstica para su detección. Esta enfermedad plantea importantes implicaciones anestésicas sobre todo en el uso de fármacos como el propofol o los bloqueantes neuromusculares por lo que es preciso conocer su fisiopatología (AU)

An inborn error of metabolism of beta-oxidation of fatty acids (acyl-coA deshydrogenasa deficiencies) is a new group of diseases. Short chain acylcoA deshydrogenasa deficiency (SCAD) is a congenital failure of autosomal recessive inheritance of mitochondrial oxidation of short chain fatty acids. The incidence is probably underestimated, whichever a high index of clinical suspicion is necessary for detection. This disease poses significant anesthetic implications especially in the use of drugs such propofol or neuomuscular blockers so it is necessary to understand its pathophisiology (AU)

[Use of a metal guide in the working channel of a fiberoptic scope to insert a tracheal tube in an infant with Treacher Collins syndrome and choanal atresia]. / Uso de guía metálica para intubación traqueal mediante fibroscopia en un neonato con síndrome de Treacher Collins y atresia de coanas.

Neonates with Treacher Collins syndrome can present difficult airways. Ventilation through a face mask and laryngoscopy for tracheal intubation may prove impossible due to the craniofacial malformations that are characteristic of this syndrome. Furthermore, patients with this syndrome are at high risk of airway obstruction, meaning that awake fiberoptic endoscopy provides the best option for tracheal intubation. This technique is especially difficult in children, however, and material required for performing it in neonates is not always available. We report the case of a 5-day-old infant boy with Treacher Collins syndrome and bilateral choanal atresia in whom we used a flexible metal guide inserted into the working channel of a fiberoptic scope. The tracheal tube could then be inserted.