Disnea laringea en recién nacido por quiste branquial / Branchial cyst causing laryngeal dyspnoea in a newborn

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Granulomatosis de Wegener causante de parálisis facial y cofosis bilaterales / Wegener’s granulomatosis causing bilateral facial paralysis and deafness

La parálisis facial bilateral (PFB) es una entidad infrecuente, que habitualmente se presenta como manifestación de una enfermedad sistémica. Presentamos el caso de una mujer afecta de granulomatosis de Wegener (GW), con especial afectación de las vías respiratorias altas y ótica, que desarrolló hipoacusia y PFB resistente a tratamientos inmunosupresores y bolos de corticoides, con pruebas de imagen que no muestran afectación del nervio facial en las estructuras óticas. Finalmente, la paciente mejoró de la PFB, pero la cofosis es permanente y se ha realizado un implante coclear. Las series publicadas sobre PFB son escasas, y no hacen referencia a la GW como posible etiología (AU)

Bilateral facial paralysis (BFP) is an uncommon condition that typically occurs as a manifestation of systemic disease. We present a female patient with Wegener's granulomatosis (WG), particularly upper respiratory and ear impairment who develops hypoacusis and BFP, resistant to immunosuppressive therapy and steroid boluses. Her imaging tests showed no involvement of the facial nerve as it passed through the ear structures. The patient finally improved the BFP; however, deafness is permanent and she has entered into a cochlear implant program. Published papers on BFP are rare and they make no reference to WG as a possible aetiology (AU)

Wegener's granulomatosis causing bilateral facial paralysis and deafness.

Bilateral facial paralysis (BFP) is an uncommon condition that typically occurs as a manifestation of systemic disease. We present a female patient with Wegener's granulomatosis (WG), particularly upper respiratory and ear impairment who develops hypoacusis and BFP, resistant to immunosuppressive therapy and steroid boluses. Her imaging tests showed no involvement of the facial nerve as it passed through the ear structures. The patient finally improved the BFP; however, deafness is permanent and she has entered into a cochlear implant program. Published papers on BFP are rare and they make no reference to WG as a possible aetiology.

Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea / Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy

La distrofia muscular oculofaríngea (DMOF) es una enfermedad hereditaria autosómica dominante que causa disfagia orofaríngea, ptosis palpebral y debilidad muscular proximal. Es causada por una expresión anormal del triplete GCG del gen PABPN1, situado en el cromosoma 14. El estudio de la disfagia orofaríngea que sufren estos pacientes se basa en la historia clínica, la endoscopia digestiva alta, la radiología con contraste baritado y la manometría esofágica. El diagnóstico definitivo se confirma con el estudio genético. Presentamos 6 casos, 3 de ellos de una misma familia, remitidos a nuestro departamento con el diagnóstico confirmado de DMOF, los cuales se sometieron a una miotomía del cricofaríngeo para conseguir una deglución normal(AU)

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosome 14 that causes this disease. The study of the oropharyngeal dysphagia that these patients suffer from should include upper gastrointestinal endoscopy, barium video-radiology and oesophageal manometry. Genetic study confirms the diagnosis. We report 6 patients (3 of whom were siblings) referred to our department with a confirmed diagnosis of OPMD, who underwent cricopharyngeal myotomy to achieve normal swallowing(AU)

Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosome 14 that causes this disease. The study of the oropharyngeal dysphagia that these patients suffer from should include upper gastrointestinal endoscopy, barium video-radiology and oesophageal manometry. Genetic study confirms the diagnosis. We report 6 patients (3 of whom were siblings) referred to our department with a confirmed diagnosis of OPMD, who underwent cricopharyngeal myotomy to achieve normal swallowing.