Subject(s)
Facial Paralysis , Mastoiditis , Otitis Media , Acute Disease , Anti-Bacterial Agents/therapeutic use , Child , Facial Paralysis/etiology , Humans , Infant , Mastoiditis/complications , Mastoiditis/diagnostic imaging , Mastoiditis/drug therapy , Otitis Media/complications , Retrospective Studies , Risk FactorsABSTRACT
INTRODUCCIÓN: El cierre quirúrgico de las perforaciones septales sintomáticas a menudo conduce a resultados no satisfactorios. El conocimiento de la irrigación vascular es de suma importancia para el éxito. OBJETIVO: El manejo de las perforaciones septales constituye un reto para el cirujano. Hay descritas una gran variedad de técnicas quirúrgicas, con distintas vías de abordaje. No existen pruebas científicas que avalen un abordaje en concreto. El objetivo de esta revisión es presentar una guía práctica sobre la técnica de elección para cada caso de perforación septal. DISCUSIÓN: La inspección de la mucosa nasal, el tamaño de la perforación, la localización y, sobre todo, el soporte osteocartilaginoso son los pilares para lograr el éxito de la cirugía. Para los colgajos de deslizamiento o rotación de la mucosa del tabique es fundamental haber estudiado previamente si es posible la elevación del mucopericondrio o mucoperiosteo del septum, de lo contrario, el uso de estos colgajos no estaría indicado. Los colgajos de la pared lateral o del suelo nasal son la alternativa. El colgajo pericraneal podría estar indicado en perforaciones totales o casi totales. CONCLUSIÓN: El remanente del septum nasal y el estado del soporte osteocartilaginoso son los factores determinantes en el manejo de las perforaciones septales. Cada caso debe valorarse individualmente y la elección del abordaje se realiza según el tamaño y la localización de la perforación, la calidad de la mucosa, los antecedentes personales, la cirugía previa y la experiencia del cirujano
OBJECTIVE: The management of septal perforations is a challenge for the surgeon. A wide variety of surgical techniques have been described, with different approaches. There is no scientific evidence to support a particular approach. The objective of this review is to present a practical guide on the technique of choice for each case of septal perforation. DISCUSSION: Inspection of the nasal mucosa, the size of the perforation, the location and especially the osteo-cartilaginous support, are the pillars of a successful surgery. For the sliding or rotating flaps of the mucosa of the septum it is essential to know in advance if the elevation of the mucopericondrio or mucoperiosteo of the septum is possible, otherwise the use of these flaps would not be indicated. The flaps of the lateral wall or nasal floor are the alternative. The pericranial flap may be indicated in total or near total perforations. CONCLUSION: The remnant of the nasal septum and status of osteo-cartilaginous support are the determining factors in the management of septal perforations. Each case should be evaluated individually and the approach chosen according to the size and location of the perforation, mucosal quality, personal history, previous surgery and the experience of the surgeon
Subject(s)
Humans , Male , Child, Preschool , Granuloma, Plasma Cell/diagnosis , Granuloma, Plasma Cell/surgery , Laryngeal Diseases/diagnosis , Laryngeal Diseases/surgery , Glottis/diagnostic imagingABSTRACT
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward. METHODS: We describe three new patients, a woman and her two sons diagnosed with CAPOS syndrome. A systematic review of literature on previously reported patients was performed. RESULTS: The first son presented with acute-onset ataxia, encephalopathy, and sensorineural hearing loss, induced by febrile illness. The second one developed generalized areflexia and mild instability without an acute episode. The mother had been previously diagnosed with sensorineural hearing loss and optic nerve atrophy. The c.2452G>A mutation in ATP1A3 was found in all three patients. CONCLUSION: Only 25 Individuals with CAPOS syndrome have been reported, including our family. This is the first time a Spanish family has been described. The fact that both siblings were assessed before the first acute-onset episode contributes to the description of early symptoms and signs of the disease, which could aid early diagnosis and management before the onset of acute episodes.
Subject(s)
Cerebellar Ataxia/diagnosis , Foot Deformities, Congenital/diagnosis , Hearing Loss, Sensorineural/diagnosis , Optic Atrophy/diagnosis , Adult , Ataxia/diagnosis , Ataxia/genetics , Ataxia/physiopathology , Cerebellar Ataxia/genetics , Cerebellar Ataxia/physiopathology , Child , Early Diagnosis , Family , Female , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/physiopathology , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/physiopathology , Humans , Male , Optic Atrophy/genetics , Optic Atrophy/physiopathology , Reflex, Abnormal/geneticsABSTRACT
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