Tarsal buckling como complicação de correção cirúrgica de ptose congênita / Tarsal buckling as a complication of surgery to treat congenital ptosis

RESUMO O presente trabalho objetivou relatar um caso de tarsal buckling associado a prolapso conjuntival e à inversão de pálpebra superior como complicação da correção cirúrgica de ptose residual. Paciente do sexo feminino, 15 anos, portadora de ptose palpebral residual unilateral em olho direito, secundária à correção parcial da ptose palpebral congênita operada na infância. A segunda abordagem cirúrgica foi realizada com ressecção da aponeurose do músculo levantador da pálpebra superior, que evoluiu com inversão conjuntival da pálpebra superior. A fragilidade estrutural do tarso é a principal hipótese para justificar o tarsal buckling subsequente à cirurgia. Houve resolução completa do tarsal buckling, porém houve também persistência da ptose palpebral. O tarsal buckling é, portanto, uma complicação cirúrgica incomum, que pode ocorrer na correção da ptose palpebral, em que há rotação posterior da metade superior do tarso, fazendo com que este se curve verticalmente sobre seu eixo, favorecendo o prolapso conjuntival. A suspeição diagnóstica e a reabordagem cirúrgica precoce favorecem a resolução da condição e previnem possíveis complicações visuais.

ABSTRACT This paper aimed to report a case of tarsal buckling associated with conjunctival prolapse and upper eyelid inversion as a complication of surgical correction of residual ptosis. A 15-year-old female patient with unilateral residual eyelid ptosis in the right eye, secondary to partial correction of congenital blepharoptosis operated in childhood. The second surgery was performed with resection of the upper eyelid levator muscle aponeurosis, which progressed to conjunctival inversion of the upper eyelid. The structural fragility of the tarsus is the main hypothesis to justify tarsal buckling after surgery. There was complete resolution of tarsal buckling, but persistence of blepharoptosis. Tarsal buckling is an infrequent surgical complication that can occur in correction of blepharoptosis, when there is posterior rotation of the upper half of the tarsus, causing it to curve vertically on its axis and favoring conjunctival prolapse. Establishing diagnosis and early reoperation favor resolution of the condition and avoid possible visual complications.

Frontalis sling surgery: do we really need the Wright needle? / Suspensão ao músculo frontal: realmente precisamos da agulha de Wright?

ABSTRACT Purpose: The aim of this study is to describe a variation in technique of the frontalis sling surgery with silicone rods and its results, using an alternative needle with similar effectiveness to the Wright needle at a reduced cost. Methods: This was a prospective, interventional, noncomparative study of patients with severe ptosis who underwent surgical correction using a simple and modified frontalis sling surgery technique. Patients were included in this study from January 2012 to January 2014. 23 surgeries were performed on 15 patients. The minimum "follow-up" was 12 months. Results: Most patients had congenital ptosis (86%) and the average preoperative margin reflex distance 1 (MRD1) was -1.1 mm (range -3 to 0 mm). 1 week post-operation, this was 2.7 mm ( 1.8 to 3.8 mm), 1.8 mm after 1 month and 1.7 mm (1 to 2.5 mm) after one year. The satisfaction rate was 80% (12 patients). Among the dissatisfied patients, one had extrusion and infection with subsequent explantation of the wire, one had asymmetry greater than 2 mm and one had persistent lagophthalmos and punctate keratitis, with subsequent explantation of silicone. Conclusion: The use of silicone rods with tarsal fixation using an alternative needle was effective in the treatment of severe ptosis with few complication rates, a low rate of dissatisfaction and good stability of the results in the follow-up period.

RESUMO Objetivos: O objetivo deste estudo é descrever uma variação da técnica cirúrgica da suspensão ao músculo frontal com fio de silicone e seus resultados, utilizando uma agulha alternativa à agulha de Wright, com a mesma eficácia e melhor razão custo-benefício. Métodos: Foram analisados prospectivamente todos os casos de blefaroptose severa submetidos à correção cirúrgica, utilizando a técnica de suspensão ao músculo frontal modificada, no período de janeiro de 2012 à janeiro de 2014. Foram realizadas 23 cirurgias em 15 pacientes. O "follow-up" mínimo foi de 12 meses. Resultados: A grande maioria dos pacientes apresentavam blefaroptose congênita (86%), a média da distância margem reflexo pré-operatória foi de -1,1mm (-3 a 0 mm), no pós-operatório de 1 semana foi de 2,7 mm (1,8 a 3,8 mm), após 1 mês foi de 1,8 mm e após 1 ano, de 1,7mm (1 a 2,5 mm). O índice de satisfação foi de 80% (12 pacientes). Dos 3 pacientes insatisfeitos, 1 teve extrusão e infecção com posterior explante do fio, 1 apresentou assimetria maior que 2mm e 1 evoluiu com lagoftalmo persistente e ceratite puntacta, com posterior explante do silicone. Conclusão: O uso do fio de silicone com fixação tarsal usando uma agulha alternativa, se mostrou eficaz no tratamento da blefaroptose severa, com poucas complicações, baixo índice de insatisfação e boa estabilidade dos resultados no período de seguimento.

Tratamento cirúrgico da blefaroptose congênita / Surgical treatment of congenital blepharoptosis

A blefaroptose é o posicionamento inadequado da pálpebra superior, estando abaixo de sua posição normal na posição primária do olhar, a qual seria 0,5 – 2mm abaixo do limbo superior. Pode causar bloqueio parcial ou completo do campo visual superior, além do comprometimento estético. As causas são categorizadas em congênitas ou adquiridas. É considerada congênita se presente ao nascimento ou diagnosticada no primeiro ano de vida. As principais técnicas utilizadas para o tratamento da ptose congênita são a ressecção da aponeurose do músculo levantador da pálpebra superior (MLPS) e a suspensão frontal. A medida da função do MLPS é o parâmetro mais importante na escolha da técnica cirúrgica. Quando a função é fraca, a suspensão frontal é mais indicada; a ressecção supramáxima do MLPS também pode ser empregada. Acima de 4 ou 5mm de função do MLPS, prefere-se a ressecção da aponeurose. Para a cirurgia de suspensão frontal, vários são os materiais utilizados, portanto apresentamos uma comparação entre os estudos mais relevantes. Discutiremos também particularidades em casos mais complicados, como as Síndromes da Blefarofimose e de Marcus-Gunn, além de técnicas cirúrgicas menos utilizadas e as complicações relatadas.

The blepharoptosis is the improper positioning of the upper eyelid, being below its normal position in primary gaze, which is 0.5 - 2mm below the superior corneal limbus. It may block partially or completely the upper visual field, and lead to aesthetic commitment. The causes are categorized as congenital or acquired. It is considered congenital if present at birth or diagnosed during the first year of life. The main techniques used for the treatment of congenital ptosis are the resection of the levator muscle aponeurosis and the frontalis suspension. The function of the levator muscle is the most important parameter to define the surgical technique. When the function is weak, the frontalis suspension is more appropriate; the supra-maximal resection of the levator muscle may also be employed. With function above 4 or 5mm, the resection of the aponeurosis is preferred. For the frontalis suspension surgery, various materials can be used, so we present a comparison of the most relevant studies. We also discuss some characteristics in more complicated cases, such as the Blepharophimosis syndrome and the Marcus-Gunn syndrome, and surgical techniques less performed and complications reported.

Ptosis Repair Using Preserved Fascia Lata with the Modified Direct Tarsal Fixation Technique

PURPOSE: To evaluate the clinical outcome of frontalis sling operation using preserved fascia lata with modified direct tarsal fixation in congenital ptosis patients. METHODS: Forty-seven congenital ptosis patients (60 eyes) who underwent a frontalis sling operation using preserved fascia lata with modified direct tarsal fixation method between March 2001 and December 2008 with a mean follow-up time of 52 months (range, 26 to 122 months) were included in this study. The medical records were reviewed retrospectively. RESULTS: A retrospective chart review was conducted in patients who were diagnosed with congenital ptosis and underwent frontalis suspension surgery using preserved fascia lata with modified direct tarsal fixation from 2001 through 2008 at Dong-A University Hospital. The patients were 34 males and 14 females. The age of the patients ranged from 1 to 18 years with an average age of 4.51 years. At a mean follow-up of 60 months, good final results were achieved in 46 eyes (76.6%), fair in 8 eyes (13.3%), and poor in 6 eyes (10%). The poor results consisted of undercorrection of 1 eye and recurrence in 5 eyes. The accumulative survival rate was 87.2%, with all recurrences occurring within 12 months postoperatively. CONCLUSIONS: Frontalis sling operation by preserved fascia lata with modified direct tarsal fixation appears to be an effective treatment for severe congenital ptosis, showing good long term results.

Outcomes of Levator Resection at Tertiary Eye Care Center in Iran: A 10-Year Experience

PURPOSE: To assess outcomes of levator resection for the surgical correction of congenital and acquired upper lid ptosis in patients with fair to good levator function and evaluation of the relationship between demographic data and success of this operation. METHODS: In a retrospective study, medical records of patients with blepharoptosis who had undergone levator resection over a 10-year period and were followed for at least 3 months were reviewed. RESULTS: Overall, 136 patients including 60 (44.1%) male and 76 (55.9%) female subjects with a mean age of 20 +/- 13.8 years (range, 2 to 80 years) were evaluated, of whom 120 cases (88.2%) had congenital ptosis and the rest had acquired ptosis. The overall success rate after the first operation was 78.7%. The most common complication after the first operation was undercorrection in 26 cases (19.1%), which was more prevalent among young patients (p = 0.06). Lid fissure and margin reflex distance (MRD1) also increased after levator resection (p < 0.001). Age, sex, type of ptosis, amblyopia, levator function, MRD1, lid fissure and spherical equivalent were not predictive of surgical outcomes of levator resection. CONCLUSIONS: Levator resection has a high rate of success and few complications in the surgical treatment of congenital and acquired upper lid ptosis with fair to good levator function. Reoperation can be effective in most cases in which levator resection has been performed.

Perfil epidemiológico dos pacientes com ptose congênita no hospital regional de São José / Epidemiological profile of congenital ptosis pacients in the hospital regional de São José

OBJETIVO: Traçar um perfil epidemiológico dos pacientes com ptose congênita no Hospital Regional de São José (HRSJ), descrevendo as características gerais das ptoses congênitas, incluindo a coexistência de estrabismo e a prevalência de ambliopia. MÉTODOS: Foi realizado um estudo epidemiológico com delineamento transversal, baseado na análise dos prontuários de pacientes com ptose congênita atendidos no Departamento de Plástica Ocular e Órbita do HRSJ, no período de julho de 1998 a julho de 2008. RESULTADOS: Foram analisados 42 pacientes (56 olhos). A idade média foi de 7,2 anos e o gênero mais prevalente foi o masculino (66,7 por cento). Foi encontrado unilateralidade da ptose em 66,7 por cento dos casos, associação com estrabismo em 19 por cento e fenômeno de Marcus Gunn em 9,5 por cento. Ambliopia foi encontrada em 17 por cento dos olhos afetados. Na classificação, 38,5 por cento dos olhos tinham ptose severa e 63 por cento tinham excursão do elevador fraca ou ausente. A conduta foi cirúrgica para 57,2 por cento dos casos e a técnica mais prevalente foi elevação ao Frontal (75 por cento). CONCLUSÃO: No presente estudo, a prevalência de ambliopia nos pacientes com ptose congênita foi maior que da população geral, reforçando a importância de uma avaliação oftalmológica precoce destes pacientes.

PURPOSE: To draw an epidemiological profile of congenital ptosis patients in the Hospital Regional de São José (HRSJ), describing the general characteristics of congenital ptosis, including the coexistence of strabismus and the prevalence of amblyopia. METHODS: An epidemiological study with a cross-sectional characteristic was conducted, based on analysis of medical records of congenital ptosis cases treated on the Department of Ocular Plastic and Orbit of the HRSJ, from July 1998 to July 2008. RESULTS: A total of 42 patients (56 eyes) were analyzed. The mean age was 7,2 years and the most prevalent genre was male (66,7 percent). Unilateral ptosis was found in 66,7 percent of cases, association with strabismus in 19 percent and Marcus Gunn phenomenon in 9,5 percent. Amblyopia was found in 17 percent of the affected eyes. About the classification, 38,5 percent of eyes had severe ptosis and 63 percent had poor or absent levator excursion. The management for 57,2 percent of cases was surgery and the most prevalent technique was Frontal elevation (75 percent). CONCLUSION: In this study, the prevalence of amblyopia in congenital ptosis patients was higher than in the general population, showing the importance of an early ophthalmologic evaluation of these patients.

Fibrosis unilateral congénita con enoftalmo y ptosis / Congenital unilateral fibrosis with enophthalmos and ptosis

El síndrome de fibrosis congénita es definido como un grupo de desórdenes congénitos raros caracterizado por la restricción de los músculos extraoculares y el reemplazo de los músculos por el tejido fibroso. Muchos autores utilizan la clasificación en la que se manifiesta en cinco tipos diferentes. El caso que se presenta corresponde a un niño quien desde el nacimiento está imposibilitado de elevar su ojo izquierdo. Al examen oftalmológico resultó positivo una ptosis palpebral en su ojo izquierdo, enoftalmo, limitación de la abducción, elevación en supraabducción y depresión. La agudeza visual en ambos ojos era de la unidad. El diagnóstico confirmado por genética fue de una fibrosis unilateral congénita con enoftalmo y ptosis. A pesar de tratarse de un desorden genético poco común, tiene formas esporádicas más raras aún. De ahí la importancia de presentar este caso, poco frecuente en nuestra práctica médica diaria

The syndrome of congenital fibrosis is defined like a group of rare congenital disorders characterized by restriction of extraocular muscles and replacement of fibrous tissue muscles. Many authors use the classification in which it is manifested in five different types. Present case is a child who from its birth can not to raise its left eye. The ophthalmic examination was positive to palpebral ptosis in this eye, enophthalmos, limitation of abduction, raise in supra-abduction and depression. The visual acuity in both eyes was of the unit. The diagnosis confirmed by genetics was that of a congenital unilateral fibrosis with enophthalmos and ptosis. Despite it is uncommon genetic disorder, it has more rare sporadic ways yet. Presentation of this uncommon case in our daily medical practice is very significant

Síndrome de Dubowitz: a propósito de un caso / Dubowitz Syndrome: a case presentation

El Síndrome de Dubowitz es un raro trastorno autosómico recesivo caracterizado por retraso del crecimiento pre y postnatal, rasgos dismórficos faciales, ptosis palpebral, retraso del desarrollo psicomotor, del lenguaje y conducta hiperactiva, discrepancia de miembros inferiores, hiperpigmentación de la piel, eczema, microcefalia, sindactilia, clinodactilia de los quintos dedos, hiperelasticidad de articulaciones, cifoescoliosis y otras anomalías como múltiples caries dentales, hipospadias, cirptorquidia, inmunodeficiencia y neoplasias. El propósito de este reporte de caso es describir un paciente pediátrico con este síndrome, especialmente asociado a infecciones respiratorias a repetición y crisis epilépticas recurrentes.

The Dubowitz Syndrome is a rare recessive autosomic disorder characterized by pre-and postnatal growth retardation, face dismorfic characteristics, palpebral ptosis, delay of psychomotor development, language and hyperactive conduct, discrepancy of inferior members, hyper pigmentation of the skin, eczematous, microcephaly, syndactylism, clinodactily of the fifth fingers, hyperelasticity of joints, kyphoscoliosis and other anomalies like multiple dental caries, hypospadias, cirptorquidia, immunodeficiency and neoplasias. The intention of this case report is to describe a pediatric patient with this syndrome, especially associated to repetitive respiratory infections and epileptic appellants’ crises.

Current techniques in surgical correction of congenital ptosis

Ptosis refers to vertical narrowing of the palpebral fissure secondary to drooping of the upper eyelid to a lower than normal position. Ptosis is considered congenital if present at birth or if it is diagnosed within the first year of life. Correction of congenital ptosis is one of the most difficult challenges ophthalmologists face. Multiple surgical procedures are available including, frontalis sling, levator advancement, Whitnall sling, frontalis muscle flap, and Mullerectomy. Selection of one technique over another depends on the consideration of several factors including the surgeon experience, the degree of ptosis in the patient, as well as the degree of levator muscle function. Current recommendations for the correction of congential ptosis vary based on clinical presentation. Advantages and disadvantages of each of these procedures are presented with recommendations to avoid complications

Ptosis congénita / Congenital ptosis

Al examinar a un paciente y detectar asimetría facial por ptosis unilateral, es necesario realizar un anamnesis completa y examen físico para dilucidar si se trata de un hecho aislado o es manifestación de un trastorno neuromuscular. A los padres les preocupa además el factor estético de la ptosis por lo cual se debe explicar y estudiar precozmente para mayor tranquilidad.

Quantidade de gordura no músculo levantador da pálpebra de portadores de ptose congênita / Congenital ptosis associated with fatty infiltration of levator eyelid muscle

OBJETIVO: Quantificar a gordura presente no músculo levantador da pálpebra de portadores de ptose congênita, correlacionando este achado com fatores clínico-epidemiológicos desta afecção. MÉTODOS: Vinte e duas amostras de músculo levantador da pálpebra superior, provenientes de portadores de ptose congênita, foram avaliadas morfometricamente, com o intuito de quantificar a gordura presente nos espécimes e correlacionar este achado com características como idade, sexo, grau de ptose e função do músculo levantador. RESULTADOS: Não houve correlação entre a quantidade de gordura encontrada no músculo levantador de portadores de ptose congênita e os dados clínicos dos pacientes estudados. CONCLUSÃO: A quantidade de gordura presente no músculo levantador da pálpebra superior, nas condições do presente estudo, não está associada com idade, sexo, grau de ptose ou função do músculo levantador. Novos estudos serão necessários para avaliar a real alteração que ocorre no músculo levantador da pálpebra de indivíduos com ptose palpebral.

PURPOSE: To quantify the fat in the levator muscle of patients with congenital ptosis, as related to clinical and epidemiological aspects of this disease. METHODS: Twenty-two levator muscle samples of the superior eyelid from patients with congenital ptosis were morphometrically evaluated with aim of establishing a relationship between the fat quantity and age, sex, ptosis degree and levator muscle function. RESULTS: According to our results the fat in the levator muscle of patients with congenital ptosis is not related to gender or epidemiologic aspects. CONCLUSION: Fat amount in the levator muscle from congenital ptosis is not related to age, sex, ptosis degree or levator muscle function. Other studies will be necessary to show the real alterations in the levator muscle related to eyelid ptosis.

Comparison of two methods for upper lid fascia lata sling in congenital blepharoptosis: a randomized clinical trial

To compare the results of two different methods of upper lid sling with autogenous fascia lata in the treatment of congenital ptosis. In a randomized clinical trial, patients with congenital upper lid ptosis and poor levator function [<4mm] were randomly assigned to two different methods of upper lid sling: group A, bitriangular fascia sling [modified Crawford method] and group B, monotriangular fascia sling [modified Fox method]. This study included 30 upper eyelids [15 eyelids in each surgical group] of 19 patients [8 unilateral and 11 bilateral cases] with congenital ptosis. Mean increase in eyelid fissure height was 2.7 +/- 2.3 mm in group A and 3.4 +/- 2.2 mm in group B, respectively. Change in eyelid fissure in both groups was significant [P<0.001, paired t-test] but intergroup difference was not [P=0.4, independent sample t-test]. Early complications such as corneal epithelial defects and entropion, and late complications such as undercorrection were comparable in the two groups. No patient experienced recurrent ptosis requiring reoperation in either group. The monotriangular method of upper lid fascia sling can be used instead of the more popular bitriangular method. Advantages include less need for fascial tissue, less periocular scar formation and a shorter period of anesthesia

Fenômeno de Marcus Gunn: diagnóstico diferencial das ptoses palpebrais na criança / Marcus Gunn Phenomenon: differential diagnosis of palpebral ptoses in children

OBJETIVO: Este trabalho teve por objetivo fazer uma revisão bibliográfica, relatar e discutir o caso clínico de um paciente com fenômeno de Marcus Gunn. DESCRIÇAO: Criança de 5 anos de idade, sexo feminino, hígida. Nos primeiros meses de vida, em consulta de puericultura, foi detectada alteração no olho direito, que, a princípio, parecia tratar-se de estrabismo. Após consultas com vários oftalmologistas, não se alcançou um diagnóstico preciso. Já aos 4 anos de idade, após exame realizado por oftalmologista pediátrico, confirmou-se o diagnóstico do fenômeno de Marcus Gunn. O restante do exame físico, incluindo exame neurológico, estava normal. Por se tratar de ptose palpebral leve, sem outras patologias associadas, optou-se por uma conduta conservadora. COMENTARIOS: Este relato visa alertar os pediatras com relação ao fenômeno de Marcus Gunn, que ainda é pouco conhecido. A partir deste conhecimento, o pediatra poderá identificar o fenômeno, possibilitando o encaminhamento precoce para a abordagem de complicações ou condições associadas, além de diagnóstico diferencial com outros tipos de ptose palpebral.

Inverse Marcus Gunn phenomenon.

Inverse Marcus-Gunn phenomenon is very rare. It is usually acquired. We report a young male patient presenting with congenital ptosis and inverse Marcus-Gunn phenomenon.

Refinement of anterior levator resection algorithm for congenital ptosis

To analyse outcome of the Levator Resection Surgery for the correction of congenital ptosis. Design: A retrospective study. Place and Duration of Study: Three hospitals at Melbourne, Australia, from January 1990 to January 2000. Subjects and It included all congenital ptosis cases repaired by anterior levator resection. Forty seven eyelids of 44 cases were included. Twenty cases were male and 24 female. Thirty one [66%] were in Primary Surgery group, while 16[34%] in Revision Surgery group. The cumulative success rate with lid position within + 1mm of the desired level was 41/47[87%]. Good outcome was achieved in 92% of cases with levator function 8mm or better compared with only 50% of cases with levator function 6-7mm. The statistical analysis done by Chi Square test did not show any statistically difference among the groups. In the congenital ptosis with levator function 8mm or better, chances of good outcome are more after levator resection

Técnica de abordaje posterior en la blefaroptosis congénita / Posterior boarding technic in the congenital blepharoptosis

Se realizó un estudio retrospectivo de pacientes intervenidos de blefaroptosis congénita desde junio de 1995 hasta junio de 1997 con técnica de abordaje posterior. Un grupo de 18 pacientes fueron intervenidos de dicha malposición palpebral; de ellos, 6 pacientes (33 por ciento) provenían de la práctica profesional pública y 12 (67 por ciento) de la privada, 17 pacientes (94 por ciento) eran menores de 15 años y 1 paciente mayor de 15 años. La función del elevador se evaluó como regular en 2 (11 por ciento) y buena en 16 (89 por ciento). El grado de ptosis se evaluó como leve en 15 (83 por ciento) y moderada en 3 (17 por ciento). En todos se llevó a cabo la técnica de abordaje posterior o tarsal con disección del músculo de MÜller y resección del mismo con o sin inclusión de fibras estriadas. Se utilizó anestesia local en uno de los pacientes; no hubo complicaciones intra o postoperatorio; se constató las bondades de esta técnica, evidenciándose su facilidad, rapidez y satisfactorios resultados cosméticos. Sin embargo cada paciente portador de blefaroptosis congénita, debe ser individualmente estudiado antes del empleo de esta o cualquier otra técnica quirúrgica

Corrección de ptosis palpebral congénita con anestesia local en pacientes pediátricos / Congenital palpebral ptosis correción under local anesthesia in pediatric subjects

El presente es un estudio descriptivo basado en experiencia clínica acerca de la corrección de ptosis palpebral en pacientes pediátricos bajo anestesia local, seleccionados según criterios de inclusión específicos, cuyo objetivo es demostrar que este procedimiento, es técnicamente factible, a fin de valorar dinámicamente el grado de correción quirúrgica durante el transoperatorio. Los pacientes se someten a dos fases evaluatorias según su cooperación, tranquilidad y comprensión, las cuales son valoradas por el cirujano y el anestesiólogo a fin de obtener resultados óptimos. El estudio incluyó 11 pacientes y 13 procedimientos, siendo la edad promedio de 8 años. Se valoraron diversos parámetros, considerando a la apertura palpebral como el indicador más importante. Los resultados finales se clasificaron según la cosmesis y la simetría palpebral, obteniendo los siguiente resultados: bueno, 7 pacientes (54 por ciento); regular, 5 pacientes (39 por ciento); y malo, 1 paciente (7 por ciento). Se revisó también a un grupo de pacientes sometidos a corrección de ptosis bajo anestesia general en el mismo lapso, a fin de establecer una comparación de nuestros resultados. Nuestro trabajo constituye una alternativa en el manejo quirúrgico de estos pacientes, debido a que permite valorar la función y evita los riesgos de la anestesia general, además de que plantea la posibilidad de realizar estudios más extensos, con el fin de valorar la prevalencia de ptosis residuales con nuestra técnica y compararlos con la técnica bajo anestesia general

Miopatía centro nuclear tardía: forma autosómica dominante / Later centronuclear myopathy: autosomal dominant form

We report a family with three generation affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle sparms may apprear. The gene is expressed with differing intensity in each individual. Myopathic electro myographic alterations are only found in fuctionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers