Ptose miogênica na distrofia muscular oculofaríngea / Miogenic ptosis in oculopharyngeal muscular dystrophy

RESUMO Relato de caso de distrofia muscular oculofaríngea, doença genética de herança autossômica dominante e uma das causas de ptose miogênica adquirida. A paciente apresentou quadro de ptose palpebral bilateral e disfagia, achados clínicos típicos da doença, foi submetida a tratamento cirúrgico da ptose, com bom resultado estético e funcional.

ABSTRACT The authors report a case of oculopharyngeal muscular dystrophy, an autosomal dominant genetic disease, which leads to miogenic ptosis. This patient presented bilateral palpebral ptosis and dysphagia and underwent ptosis surgical treatment, with a good functional and aesthetic result.

Presentación de dos casos con desviación vertical disociada relacionada con patrón en A / Presentation of two cases of dissociated vertical deviation related to A-pattern

La desviación vertical disociada es un fenómeno bilateral, asimétrico, en el cual se presenta un movimiento de elevación, abducción y exciclotorsión durante la oclusión monocular, que generalmente es más evidente en el ojo no fijador. Cuando se asocia a patrones en A y sobreacción de ambos oblicuos superiores, se conoce como tríada que puede ser primaria o secundaria a cirugía de esotropía. Al planear la cirugía en estos casos siempre hay que tener presente la presencia de simetría y el grado de incomitancia. Las opciones quirúrgicas estarán en dependencia si es una tríada primaria no cirugía previa o si estamos ante una tríada secundaria. Presentamos dos pacientes con tríada secundaria donde, a pesar de tener el mismo diagnóstico, el planteamiento quirúrgico es diferente. Se realiza en una paciente recesión de ambos rectos laterales 7 mm con desplazamiento de la inserción hacia abajo la mitad de la inserción y miectomía oblicuo inferior derecho y en el otro caso recesión asimétrica de ambos rectos superiores 6 mm ojo derecho y 4 mm ojo izquierdo

The dissociated vertical deviation is a bilateral, asymmetric phenomenon, in which an elevation, abduction and excyclotorsion movement occurs during the monocular occlusion that is generally more evident in the non-fixing eye. When the vertical deviation is associated to A-patterns and overreaction of both superior oblique muscles, then this entitiy is known as triad that can be primary or secondary to esotropia surgery. In planning one surgery for these cases, it is always necessary to take into account the symmetry and the non-commitance grade. The surgical options will depend on whether it is a primary not prior surgery triad or a secondary triad. Here are two patients with secondary triad who, despite their similar diagnosis, the surgical plan for both were different. One patient underwent about 7 mm recession of both lateral rectus muscles with the insertion displacement downwards half of the insertion and myectomy in the right inferior oblique muscle whereas asymmetric recession of both superior rectus muscles, 6 mm for the right eye and 4 mm for the left eye, was performed in the other patient

Regeneração aberrante do nervo oculomotor secundária a aneurisma intracraniano: relato de caso / Aberrant regeneration of the oculomotor nerve followed by intracranial aneurysm: case report

Relatar um caso de regeneração aberrante secundária à paralisia aguda do nervo oculomotor causada por aneurisma intracraniano. Paciente atendida em fevereiro de 2006 queixando-se de dor de cabeça acompanhada de visão dupla e queda da pálpebra no olho direito. Na avaliação da motilidade ocular extrínseca, verificou-se incapacidade da adução, da supradução e da infradução associada à blefaroptose no olho direito. Com relação à motilidade intrínseca, midríase paralítica no olho direito. Formulou-se diagnóstico de paralisia aguda de nervo oculomotor no olho direito e solicitou-se avaliação neurológica. No Departamento de Neurocirurgia, após ser diagnosticada presença de aneurisma de artéria comunicante posterior, a paciente foi submetida a tratamento cirúrgico. Em dezembro de 2006, observou-se melhora relativa da adução, mantendo a incapacidade da supradução e da infradução com blefaroptose melhorada à adução do olho direito. Com relação à motilidade intrínseca, miose no olho afetado. O diagnóstico de regeneração aberrante do nervo oculomotor pós-paralisia aguda foi formulado baseando-se na anamnese e nos exames oftalmológicos seqüenciais.

To report a case of aberrant regeneration followed by acute palsy of the oculomotor nerve caused by intracranial aneurysm. A 59-year-old patient was attended in February 2006 complaining of headache with diplopia and blepharoptosis in the right eye. At the external ocular motility exam. Aduction, supraduction and infraduction defects with blepharoptosis in the right eye were observed. Regarding the internal ocular motility, mydriasis in the right eye. Acute palsy of the oculomotor nerve in the right eye was diagnosed and neurological examination was requested. At the Department of Neurosurgery, after having diagnosed aneurysm of the posterior communicating artery, the patient was submitted to an operation. In December 2006, it improvement of the aduction was observed, supraduction and infraduction defects remained and blepharoptosis improved during aduction of the right eye. In the internal ocular motility, miosis in the affected eye. The diagnosis of the aberrant regeneration of the oculomotor nerve after acute palsy was formulated based on anamnesis and ophthalmological follow-up tests.

Double elevator palsy, subtypes and outcomes of surgery

To describe the clinical manifestations of subtypes of double elevator palsy and to report the outcomes of surgery in these patients. This retrospective study was conducted on hospital records of patients with double elevator palsy at Labbafinejad Medical Center over a ten-year period from 1994 to 2004. Patients were classified into three subgroups of primary elevator muscle palsy [9 subjects], primary supranuclear palsy with secondary inferior rectus restriction [4 subjects] and pure inferior rectus restriction [7 subjects] according to forced duction test [FDT], force generation test [FGT] and Bell's reflex. Patients in the first group underwent Knapp procedure, the second group received Knapp procedure and inferior rectus recession simultaneously and in the third group vertical recess-resect or mere inferior rectus recess operation was performed. Success was defined as final residual deviation of 5 PD or less and 25% improvement or more in restriction after all operations. Overall 20 subjects including 10 male and 10 female patients with mean age of 12.6 +/- 9.3 [range 1.5-32] years were operated during the mentioned period which included 9 cases of primary elevator muscle palsy, 4 patients with primary supranuclear palsy and secondary inferior rectus restriction, and 7 subjects with pure inferior rectus restriction. Mean follow-up was 22.0 +/- 20.0 [range 3-63.5] months. Mean pre and post-operative deviation was 32.0 +/- 8.0 PD and 3.8 +/- 8.0 PD [P < 0.001] respectively, and mean restriction before and after the operation[s] was -3.5 +/- 0.7 and -2.3 +/- 1.2 [P < 0.001], respectively. Success rate was 77% for correction of deviation and 80% for improvement in muscle restriction. Surgery for double elevator palsy must be individualized according to FDT, FGT and Bell's reflex. The outcomes are favorable with appropriate surgical planning

Afección de los oblicuos superiores en la enfermedad de Graves / Superior oblique muscle disorder in Graves'Disease

El objetivo del trabajo es describir las características clínicas y tomográficas de pacientes con estrabismo por Enfermedad de Graves, en quienes se verificó la afección de los músculos oblicuos superiores, hallazgo poco frecuente y escasamente reportado en la bibliografía médica.

Síndrome de Fells-Waddel / Waddell Fells syndrome

Objetivo: Describir la fenomenología, génesis y alteraciones musculares del Síndrome de Fell-Waddel (FW) como parte de los desórdenes inervacionales congénitos. Se presentan dos casos. Método: Se realizó un análisis de la genética del rombencéfalo para comprender las posibles alteraciones del FW. Se analizaron dos casos, a los que se realizó la cirugía bajo anestesia tópica para el análisis de las funciones musculares. Resultados: En ambos casos se demostró la restricción en las diferentes rotaciones oculares, siendo mayor en el adulto. El debilitamiento de los rectos inferiores provocó una exotropia importante al frente, la divergencia en el intento de depresión y convergencia en el intento de elevación que tuvo sólo leve mejoría con el debilitamiento de los oblicuos superiores, en el segundo caso se analiza con cirugía bajo anestesia tópica su persistencia con los oblicuos superiores desinsertados. Conclusiones: Considerando la anomalía reportada de la división superior del III nervio en las disgnesias congénitas, podemos atribuir los cambios presentados en ambos casos a inervaciones aberrantes de la división inferior del III nervio craneal a los rectos laterales lo que correspondería con la divergencia e el intento de depresión, y a su vez la convergencia en el intento de elevación seria secundaria a la orden inhibitoria a los rectos laterales, quedando funcionando los restos mediales. El debilitamiento de los rectos inferiores, cirugía más frecuente en los síndromes de fibrosis de músculos extraoculares tipo I provocará una exotropia al frente que debe ser corregida.

Objective: To describe clinical characteristics, genetic and muscular anomalies in Fells-Waddel syndrome (FW), a congenital cranial dysinnervation disorder. Method: We analyzed the genetics of rhombencephalon to explain alterations in FW. We present two cases of FW which underwent surgery where orbital alterations were demonstrated. Topical anesthesia was used in the second case for analysis of muscular functions. Results: Restriction was demonstrated in both cases, but it was worse in the adult. Recession of the inferior rectus caused a big exotropia. Divergence in depression and convergence in elevation were improved only partially after recession of superior oblique. In case 2, the patient was alert under topical anesthesia, and while these muscles were free, the anomalies persisted. Conclusions: There is an anomaly of superior division of III nerve in these cases, so these movements can be secondary to aberrant innervations of inferior division of the III nerve to the lateral rectus, this can explain divergence during depression. Convergence in elevation is explained because of the inhibitory effect on the lateral rectus while de medial rectus are still functional. Recession of inferior rectus is the most common surgery in these cases, which will cause a big exotropia that must be corrected.

Resultados en el largo plazo de la tenotomía cercana a la inserción del oblicuo superior en el síndrome de Brown / Results in the long term of thenotomy of superior oblique in the Brown syndrome

Objetivo, Material y Método: Estudiar el efecto a largo plazo de la tenotomía del oblicuo superior (OS) a nivel de la inserción en 2 pacientes. Resultados: El caso N°1 presentaba endohipotropía izquierda, déficit total de la elevación en aducción y downshoot. Se operó a los 6 años: desinserción del OS izquierdo y retroceso de un recto medio. Diecisiete años después tiene microtopía alternante y motilidad prácticamente normal. El caso N°2, con S. de Brown puro, del ojo derecho, se le efectuó tenotomía del OS a 4 mm de su inserción, casi a los 2 años de edad. Trece años más tarde está ortotrópico, con visión binocular incompleta e hiperfunción secundaria del oblicuo inferior, sin significancia clínica. Conclusiones: En los 2 casos la restricción estaba a nivel del tendón del OS. El tratamiento fue exitoso y se fue manifestando gradualmente hasta meses o años después. No hubo necesidad de segunda intervención.

Elongamiento del músculo oblicuo superior como técnica de debilitamiento / Partial tenotomy as a weakening parocedure of the superior muscle

Objetivo: Presentar la técnica de elongamiento del oblicuo superior mediante cortes en Z y evaluar los resultados.Método: Se realiza el elongamiento de los músculos oblicuos superiores en pacientes con incomitancia vertical o síndrome en A por hiperfunción de dichos músculos asociado o no a estrabismos horizontales.Resultados: Se realizó la cirugía en 30 pacientes (60 ojos) que cumplían con los criterios de inclusión y fueron evaluados a los 3 días, al mes y a los 3 meses encontrándose la eliminación de la incomitancia vertical con buena función muscular y sin presentarse complicaciones como paresias del oblicuo superior postoperatorias.Conclusión: Consideramos que la técnica quirúrgica presentada ofrece buenos resultados en el tratamiento de la hiperfunción de los oblicuos superiores, así como un menor número de complicaciones.

Ocular Torticollis. a case report and literature review

A four-year-old female child with left superior oblique muscle palsy and ocular torticollis, is reported. She has been misdiagnosed and treated as congenital [developmental] torticollis [Wryneck]. The importance of checking ocular motility in children with torticollis have been emphasized. In this report the clinical presentation, test, and management described. A review of literature is presented

The "one-and-a-half" syndrome: case report

The authors describe a case of a ten-year-old boy with one-and-a-half syndrome secondary to a lesion at the dorsal tegmentum in the lower pons, and comment on the horizontal gaze physiology.

Bimedial recession versus recession-resection for intermediate angle esotropia: a comparison of results

A retrospective study of 169 consecutive patients with comitant esotropia, selected according to certain criteria, was conducted to compare the results of bilateral medial rectus recession [BMR] with those of unilateral medial rectus recession plus lateral rectus resection [R-R]. Only patients who had not previous strabismus surgery, had no neurological dysfunction, amblyopia, or ocular or anatomical pathology or restrictive components, and whose angles of deviation, with correction, fell within the range of 25 to 45 prism diopters [delta D] at distance were included. Surgery was defined as successful if there was 10 delta D or less deviation from orthotropia [at distance, with correction] at least one year postoperatively. Using this definition, rates of success of the two procedures were comparable, averaging 71% for BMR and 77% for R - R; on the other hand, 5% of patients in the BMR group and 7% in the R - R group retained a deviation in excess of 20 delta D. BMR was also statistically superior in improving distance-near disparity and was associated with a lower rate of postoperative complications not related to alignment

Tratamiento del síndrome de Brown / Treatment of Brown's syndrome

El tratamiento del síndrome de Brown verdadero está solo indicado si hay una hipotropia en posición primaria de la mirada o una posición anormal de la cabeza. Se valoraron los resultados de los tratamientos quirúrgicos con tenotomía del oblicuo superior, tenotomía del oblicuo superior con debilitamiento simultáneo del oblicuo inferior y la elongación con banda de silicona

Modificaciones del ángulo de desviación horizontal en posición primaria de la mirada después del debilitamiento de oblicuos inferiores / Modifications of the horizontal deviation angle in vision primary position after inferior obliques weakening

En este trabajo retrospectivo se estudiaron los cambios del ángulo de desviación horizontal en posición primaria de la mirada (PPM), después del debilitamiento bilateral de oblicuos inferiores. Se evaluaron 21 pacientes con un año de evolución postoperatoria a quienes se les había efectuado, como única operación debilitamiento bilateral de oblicuos inferiores. Diez presentaban exotropia, 7 esotropia y 4 ortotropia. Se registró el ángulo en PPM, en extrema mirada arriba y en extrema mirada abajo; antes de la cirugía y al año de la operación. En el 48 porciento de los casos, en PPM se observó desplazamiento de los ojos hacia la convergencia, tanto en pacientes esotrópicos como exotrópicos (p=0,001)