Marcus Gunn Syndrome in Primary Care: A Case Report.

Marcus Gunn syndrome (MGS) is a rare craniofacial condition characterized by abnormal eyelid movements synchronized with jaw muscle activity. This case report describes a one-month-old girl with right eyelid ptosis and involuntary movements of the right eyelid during sucking. The diagnosis of MGS was made based on clinical observations. The etiology of MGS is not well-defined, and long-term follow-up is necessary to assess the progression of the condition. Early referral to ophthalmologists and neurologists/pediatricians is important to evaluate concomitant conditions and prevent secondary complications. Primary care physicians, who maintain continuous contact with patients, play a crucial role in detecting initial symptoms, initiating appropriate investigations, and coordinating multidisciplinary care. By raising awareness among primary care physicians about the signs, symptoms, and referral pathways for MGS, this case report aims to improve the recognition and management of this rare condition in primary care settings. Emphasizing the role of family doctors in the early identification and referral of MGS can lead to better outcomes for affected patients.

Resultados funcionales de la blefaroplastia superior / Functional results of upper blepharoplasty

Objetivo: Describir los resultados funcionales de la blefaroplastia superior. Métodos: Se realizó un estudio descriptivo longitudinal prospectivo de 99 pacientes (198 párpados) con diagnóstico de dermatochalasis de párpado superior, algunos asociados a ptosis palpebral y de la ceja, en el Instituto Cubano de Oftalmología "Ramón Pando Ferrer", en el período comprendido de febrero del año 2019 a enero de 2020. Resultados: El 85,8 por ciento fueron del sexo femenino y el 43,5 por ciento eran mayores de 62 años. Predominó la dermatochalasis del párpado superior y la ptosis palpebral en el 68,4 por ciento, así como la dermatochalasis y la ptosis palpebral severa, las cuales representaron el 47,5 y el 50 por ciento respectivamente. En el grupo de 56 a 61 años sobresalió la dermatochalasis del párpado superior y la ptosis de la ceja, con el 61 por ciento. En el 98 por ciento de los casos intervenidos se obtuvo la corrección total de la dermatochalasis del párpado superior, la corrección de la ptosis en el 86 por ciento y de la ceja en el 88 por ciento. No se presentaron complicaciones en el 94 por ciento de los párpados intervenidos. La complicación más frecuente fue el sangramiento, con el 2,5 por ciento. Conclusiones: El abordaje de la ptosis palpebral y de las cejas transblefaroplastia superior logra en la mayoría de los pacientes la corrección total de estas afecciones y de la dermatochalasis. Este procedimiento constituye una herramienta importante para el rejuvenecimiento facial(AU)

Objective: Describe the functional results of upper blepharoplasty. Methods: A prospective longitudinal descriptive study was conducted of 99 patients (198 eyelids) diagnosed with upper eyelid dermatochalasis, in some cases associated to eyelid and eyebrow ptosis. The study was carried out at Ramón Pando Ferrer Cuban Institute of Ophthalmology from February 2019 to January 2020. Results: Of the total patients studied, 85.8 percent were female and 43.5 percent were aged over 62 years. Upper eyelid dermatochalasis and palpebral ptosis prevailed with 68.4 percent, whereas severe dermatochalasis and palpebral ptosis represented 47.5 percent and 50 percent, respectively. A predominance was found of upper eyelid dermatochalasis and eyebrow ptosis in the 56-61 age group (61 percent). Total correction of upper eyelid dermatochalasis was achieved in 98 percent of the cases intervened, eyelid ptosis correction in 86 percent and eyebrow ptosis correction in 88 percent. No complications appeared in 94 percent of the eyelids intervened. The most common complication was bleeding with 2.5 percent. Conclusions: In most cases, management of palpebral ptosis and upper eyebrow transblepharoplasty achieves total correction of these disorders and dermatochalasis. The procedure is an important tool for facial rejuvenation(AU)

Miastenia gravis en la infancia: una serie de tres casos / Myasthenia gravis in infancy: a series of three cases

La miastenia gravis es una enfermedad neuromuscular crónica debida a deficiencia de transmisión nerviosa en la unión neuromuscular, de origen generalmente autoinmune en el adulto, que se caracteriza por grados variables de debilidad de los músculos esqueléticos del cuerpo, que aumenta durante los períodos de actividad y disminuye después de períodos de descanso. Sin embargo en la infancia cobran especial relevancia los síndromes miasténicos congénitos, que encuentran su origen en mutaciones de genes que codifican proteínas que juegan papeles clave en el mantenimiento de la transmisión neuromuscular, teniendo edad de inicio, distribución de debilidad y respuesta a tratamiento variables. Se presentan tres casos con el objetivo de describir el comportamiento clínico de la enfermedad y la utilidad de estudios complementarios ya que es de suma importancia su precoz identificación y tratamiento. Palabras claves: Miastenia gravis, test de estimulación repetitiva, ptosis palpebral, unión neuromuscular, pares craneanos

Myasthenia gravis is a chronic neuromuscular disease due to deficiency of nerve transmission in the neuromuscular junction, usually of an autoimmune origin in the adult, which is characterized by varying degrees of weakness of the skeletal muscles of the body, which increases during periods of activity and decreases after periods of rest. In childhood, however, congenital myasthenic syndromes, which find their origin in mutations of genes that encode proteins that play key roles in maintaining neuromuscular transmission, which may have a varying age of onset, distribution of weakness and response to treatment, are particularly relevant. Three cases are presented with the aim of describing the clinical presentation and course of the disease and the usefulness of complementary studies, since its early diagnosis and treatment is of paramount importance.Keywords: Myasthenia gravis, repetitive stimulation test, palpebral ptosis, neuromuscular junction, cranial pairs.

Patología oculoplástica: experiencia de 7 años en Hospital del Sistema de Salud Público de Chile / Oculoplastic Pathology: experience of 7 years in Hospital of the Public Health System of Chile

INTRODUCCIÓN: La cirugía oculoplástica estudia y trata los trastornos de párpados, órbita y vías lagrimales. Entre las patologías más importantes por frecuencia e impacto tenemos: ptosis palpebral, blefarochalasis, ectropión y entropión. OBJETIVO: Analizar la experiencia del Hospital El Pino en cuanto al manejo de patología oculoplástica en manos de un cirujano plástico. MATERIALES Y MÉTODO: Estudio descriptivo y retrospectivo. Se revisaron fichas de pacientes operados con diagnóstico de blefarochalasis, ptosis palpebral, ectropión y entropión entre los años 2010 y 2017. Se analizaron datos como edad, sexo, comorbilidades, causa del defecto, cirugía oculoplástica, tipo de anestesia, complicación posoperatoria, tiempo de seguimiento y resultados. RESULTADOS: Entre los años 2010 y 2017 se operaron 79 pacientes con patología oculoplástica, 17 por ptosis palpebral, 42 por blefarochalasis, 14 por ectropión y 6 por entropión, siendo la principal causa senil (93,7%). Las cirugías realizadas fueron: pexia del elevador para Ptosis palpebral, blefaroplastía para blefarochalasis y para ectropión-entropión tarsal strip. La principal técnica anestésica utilizada fue anestesia local + sedación (54,4%). Entre el total de complicaciones posoperatorias tenemos: lagoftalmo (2 casos), ectropión residual (3 casos), conjuntivitis (3 casos), dehiscencia de herida (2 casos) y hematoma palpebral (1 caso). Se reintervinieron 6 pacientes por complicaciones. Los resultados obtenidos según la evaluación subjetiva del cirujano plástico y pacientes fueron regular (5 casos), bueno (20 casos) y muy bueno (54 casos). CONCLUSIÓN: El manejo de la patología oculoplástica requiere en su mayoría de cirugías ambulatorias con buenos resultados y poca morbilidad, lo cual es factible de realizar en un hospital público. Creemos necesario el uso de algún instrumento objetivo para evaluar de mejor manera los defectos palpebrales y su corrección.

INTRODUCTION: The oculoplastic surgery studies and treats disorders of the eyelids, orbit and lacrimal ways. Among the most important pathologies by frequency and impact are: palpebral ptosis, blepharochalasis, ectropion and entropion. AIM: Analyze the experience of El Pino Hospital regarding the management of oculoplastic pathology in the hands of a plastic surgeon. MATERIALS AND METHOD: Descriptive and retrospective study. We reviewed files of patients operated with diagnosis of blepharochalasis, palpebral ptosis, ectropion and entropion between the years 2010 and 2017. Data were analyzed as age, sex, comorbidities, cause of the defect, oculoplastic surgery, type of anesthesia, postoperative complication, follow-up time and results. RESULTS: Between the years 2010 and 2017, 79 patients with oculoplastic pathology operated, 17 for palpebral ptosis, 42 for blefarochalasis, 14 for ectropion and 6 for entropion, being the main senile cause (93,7%). The surgeries performed were: elevator pexis for palpebral ptosis, blepharoplasty for blefarochalasis and for ectropion-entropion tarsal strip. The main anesthetic technique used was local anesthesia + sedation (54,4%). Among the total postoperative complications, we have: lagophthalmos (2 cases), residual ectropion (3 cases), conjunctivitis (3 cases), wound dehiscence (2 cases) and palpebral hematoma (1 case). Six patients were reoperated due to complications. The results obtained according to the subjective evaluation of the plastic surgeon were regular (5 cases), good (20 cases) and very good (54 cases). CONCLUSION: Management of oculoplastic pathology requires mostly ambulatory surgeries with good results and low morbidity, which is feasible to perform in a public hospital. We believe it is necessary to use some objective instrument to better evaluate the palpebral defects and their correction.

Resección modificada de la aponeurosis del elevador del párpado superior / Modified resection of the upper eyelid levator aponeurosis

Objetivo: Describir la utilidad de la técnica de resección modificada de la aponeurosis. Método: Se realizó un estudio observacional, descriptivo y prospectivo de serie de casos con un solo grupo de control, de 13 pacientes (17 párpados), con ptosis aponeurótica sin desinserción, de febrero a diciembre del año 2017, en el Instituto Cubano de Oftalmología "Ramón Pando Ferrer". Resultados: El 61,5 por ciento fue del sexo masculino y el 30,7 por ciento eran mayores de 60 años. El 30,7 por ciento presentaba ptosis senil y el 47,1 por ciento era severa. La función del músculo elevador resultó buena en el 64,7 por ciento y se logró la corrección quirúrgica en el 88,3 por ciento. Se presentó el 30 por ciento de complicaciones. Conclusiones: La ptosis resulta más frecuente en pacientes mayores de 60 años del sexo masculino, con predominio de la ptosis involutivo-senil, unilateral y severa. La técnica de resección modificada de la aponeurosis resulta efectiva en la mayoría de los casos, en los que se presenta un mínimo de complicaciones. En los pacientes en quienes no se logra la corrección, esto ha estado determinado por una débil inserción de la aponeurosis al tarso, dado por el sangramiento profuso que impide la correcta visualización de los planos quirúrgicos(AU)

Objective: Describe the usefulness of the technique of modified aponeurosis resection. Methods: An observational descriptive prospective case-series study was conducted with a single control group of 13 patients (17 eyelids) with aponeurotic ptosis without disinsertion, from February to December 2017 at "Ramón Pando Ferrer" Cuban Institute of Ophthalmology. Results: 61.5 percent of the study sample were male and 30.7 percent were aged over 60 years. 30.7 percent had senile ptosis, and in 47.1 percent it was severe. Levator muscle function was good in 64.7 percent of the cases, and surgical correction was achieved in 88.3 percent. Complications occurred in 30 percent. Conclusions: Ptosis is more common among male patients aged over 60 years, with a predominance of senile involutional, unilateral and severe ptosis. The technique of modified aponeurosis resection is effective in most cases, with minimum complications. In a number of patients correction is not achieved, due to a weak insertion of the aponeurosis into the tarsus, given the profuse bleeding, which hampers correct visualization of the surgical planes(AU)

Fenômeno de Marcus Gunn recidivado: relato de caso e revisão bibliográfica / Surgical treatment of relapsed Marcus Gunn syndrome: a case report and literature review

INTRODUÇÃO: O fenômeno de Marcus Gunn é uma ptose congênita rara e pouco conhecida, de origem neurogênica, de fisiopatogenia ainda não esclarecida. Os autores relatam um caso de ptose acentuada e recidivada após quatro correções cirúrgicas, e fazem uma breve revisão bibliográfica. RELATO DE CASO: Adulto jovem de 19 anos, sexo masculino, foi submetido a quatro tentativas de correção de ptose palpebral a direita em outros serviços, sem diagnóstico da origem da ptose congênita. O paciente apresentava abertura palpebral do olho direito ao abrir a boca, ao lateralizar o olhar para o lado ipse-lateral, e ao fechamento do olho contra-lateral. A última cirurgia foi realizada 2 anos antes, com posicionamento e fixação de fitas de silicone. O paciente não apresentava nenhum déficit neurológico ou visual. Foi submetido à cirurgia para remoção das fitas de silicone anteriormente posicionadas, confecção de enxertos em fita de técido fibroconectivo da fáscia lata do membro inferior direito, miectomia do musculo elevador da pálpebra ptosada, fixação dos enxertos da fáscia lata na borda superior do tarso com tração e fixação ao musculo frontal ipsilateral. Evoluiu com movimentos sincrônicos das pálpebras bilateralmente, e sem recidiva do ptose até o presente momento.

INTRODUCTION: Marcus Gunn syndrome is a rare and little known congenital ptosis of neurogenic origin. Its physiopathological mechanism has not been clarified. The authors report a case of pronounced ptosis that relapsed after four surgical corrections, along with a brief literature review. CASE REPORT: A 19-year-old young adult underwent four surgical corrections of the right palpebral ptosis in other services, without a definite diagnosis of the origin of the congenital ptosis. The patient showed eyelid opening in the right eye on opening the mouth, when the eye is lateralized to the ipsilateral side, and with contralateral eye closure. The last surgery was performed 2 years prior, during which silicone bands were placed and fixated. The patient did not present any visual or neurological deficit. He underwent surgery in order to remove the silicone bands that were previously placed, to prepare the strip grafts made of fibrous connective tissue from the fascia lata of the right inferior limb, and to perform myectomy of the levator muscle of the palpebral ptosis, fixation of the fascia lata grafts at the upper edge of the tarsus with traction and fixation to the ipsilateral frontal muscle. The patient progressed with synchronic movements of the eyelids bilaterally, and without relapse of the ptosis until the present date.

Parálisis criptogénica del III par craneal / Cryptogenic palsy of the third cranial nerve

La parálisis aislada del tercer par craneal no es frecuente en los niños. Entre las causas que la originan se encuentran las congénitas, traumáticas, infecciosas, tumorales, vasculares, tóxicas y desmielinizantes. Se presenta un paciente de 3 años de edad con el diagnóstico de una oftalmoplejía aguda dolorosa del tercer par craneal, cuya etiología no se pudo demostrar. El cuadro clínico desapareció de forma espontánea y no ha presentado recurrencias después de 3 años de seguimiento. Se concluye que ante un paciente con parálisis del tercer par craneal es necesario realizar una exhaustiva evaluación con el propósito de precisar las diversas causas que la provocan

Isolated third cranial nerve palsy is not frequent in children. Among the causes are congenital, traumatic, infectious, tumoral, vascular, toxic and demyelinizing. This is the case of a 3-years old patient diagnosed with acute painful ophthalmoplegia of the third cranial nerve, in which etiology could not be proved. The clinical picture disappeared spontaneously and no recurrence has emerged after 3 years of follow-up. It was concluded that when dealing with a patient with third cranial nerve palsy, it is necessary to make a thorough assessment to precise over the different causes

El síndrome del cerebro descalificado: redivivo / The disquality brain syndrome: revivified

Se describe una nueva patología nostra-de nosotros los médicos-un nuevo síndrome que afecta al médico moderno en su relación con sus pacientes y enfermedades. Se postula que el ente mórbido toma su origen en la servil sumisión del facultativo ante la ¨Deidad Máquina¨ a quien concede, entre otros atributos, omnisciencia y omnipotencia. Como resultado de su fantasía, con mucha frecuencia ¨descalifica su cerebro¨ y abdica su juicio clínico a favor de los dictados erróneos de aquella, con el consiguiente perjuicio para el paciente. Como ilustración de la condición se narran las vicisitudes de algunos enfermos y el tortuoso camino del diagnóstico de sus condiciones patológicas

The ¨dysqualified¨ brain syndrome. The author describes a hitherto undescribed syndrome which affects the modern physician and his/her relationship with patients and their diseases. He postulates that the morbid entity takes its origin from the doctor’s submission to the ¨Machine Deity¨ to whom he concedes, among other attributes, those of omnipotence and omniscience. As a result of this fantasy, physicians frequently ¨disqualify¨ his/her brain,and abdicate their clinical judgment in its favor with the ensuing disservice to their patients. As an illustration of such condition, the difficulties of several patients are presented, whose diagnostics were abusive, erroneous or delayed due to deficient clinical histories

Síndrome de Kearns-Sayre: relato de dois casos / Kearns-Sayre syndrome: two case reports

Descrevem-se dois casos em que os pacientes tinham como queixa principal a baixa da acuidade visual progressiva em evolução de quatro anos e oito meses, respectivamente. O quadro clínico de oftalmoplegia externa, com alterações fundoscópicas demonstrando atrofia da retina, epitélio pigmentar e coriocapilar, levou ao diagnóstico clínico de síndrome de Kearns-Sayre. A investigação etiológica do quadro oftalmológico é fundamental, pois na maioria das vezes está associado a condições sistêmicas graves que necessitam de acompanhamento e tratamento adequados.

Two cases in which patients had progressive loss of visual acuity in four years and eight months respectively are described. Clinical examination revealed fundoscopic alterations of the retina, pigment epithelium and choriocapillaris showing marked atrophy. The clinical picture resembles Kearns-Sayre syndrome. Etiological investigation is fundamental, because most of time this condition is associated with more serious systemic complications which need specific care.