Síndrome de Miller Fisher, un desafío diagnóstico de oftalmoplejía: reporte de un caso / Miller Fisher syndrome, a diagnostic challenge of ophthalmoplegia: a case report

El síndrome de Guillain-Barré (SGB), y sus derivados, entre ellos el síndrome de Miller Fisher (SMF); junto a otras patologías de origen neurológico como la Polineuropatía desmielinizante inflamatoria crónica (CIDP), las polineuropatías de causa metabólica, miastenia gravis, esclerosis lateral amiotrófica (ELA), síndrome de Lambert-Eaton, encefalopatía de Wernicke entre otras; presentan signos y síntomas neurológicos de presentación común. De este modo, la importancia del examen neurológico acabado; y los exámenes de apoyo diagnóstico como: laboratorio -destacando el líquido cefalorraquídeo (LCR)-, electromiografía, y toma de imágenes, son cruciales para esclarecer el diagnóstico. Así, es posible ofrecer un tratamiento de forma precoz, basado en la evidencia, y con el objetivo de disminuir la letalidad de la enfermedad. En el presente texto se plasma un subgrupo de patología de SGB, el SMF, el cual posee una incidencia significativamente baja, una clínica característica, y un pronóstico bastante ominoso sin un tratamiento adecuado. En el presente texto se plasma el reporte de un caso abordado en el Hospital San Pablo de Coquimbo, Chile.

Guillain-Barré syndrome (GBS) and its derivatives, including Miller Fisher syndrome (MFS), along others pathologies of neurological origin such as chronic inflammatory demyelinating polyneuropathy (CIDP), metabolic polyneuropathies, myasthenia gravis, amyotrophic lateral sclerosis (ALS), Lambert-Eaton syndrome, Wernicke's encephalopathy and well as others, have common neurological signs and symptoms. In this way, the importance of a thorough neurological examination, and supporting diagnostic tests such as: laboratory, -cerebrospinal fluid (CSF)-electromyography, and imaging, are crucial to clarify the diagnosis. Thus, it is possible to offer early, evidence-based treatment with an aim of reducing the disease's lethality. In the text below we present a subgroup of GBS pathology, MFS, which has a significantly low incidence, a characteristic clinical picture, and a rather ominous prognosis without adequate treatment. In the following text/paper is shown the report of a case approached in San Pablo Hospital, from Coquimbo, Chile.

Síndrome de Tolosa-Hunt, uma oftalmoplegia dolorosa / Tolosa Hunt Syndrome, a painful ophthalmoplegia

Resumo A síndrome de Tolosa-Hunt (STH) é uma doença rara caracterizada por oftalmoplegia dolorosa unilateral de início súbito causada por uma inflamação granulomatosa inespecífica no seio cavernoso ou fissura orbital superior (ou ambos). A oftalmoparesia ocorre quando os nervos cranianos III, IV e VI são acometidos pela inflamação. Disfunções pupilares podem estar presentes e está relacionado com acometimento das fibras simpáticas que passam pelo seio cavernoso na porção da artéria carótida interna ou fibras parassimpáticas ao redor do nervo oculomotor. O acometimento do primeiro ramo do trigêmeo pode provocar parestesia território correspondente à distribuição desde ramo (testa). Raramente, pode haver extensão da inflamação para além do seio cavernoso ou fissura orbital superior podendo acometer também o nervo óptico. Há uma boa resposta com o uso de corticoides e pode haver remissões espontâneas. Recidivas ocorrem em 40% dos casos. A doença é mais comum após a segunda década de vida. Afeta ambos os gêneros de forma igualitária. O presente estudo trata-se de um relato de caso de um paciente que se apresentou com oftalmoplegia dolorosa de início súbito à direita com 4 dias de evolução seguido de amaurose ipslateral após um dia do início da dor.

Abstract Tolosa-Hunt syndrome (STH) is a rare disease characterized by sudden onset unilateral painful ophthalmoplegia caused by non-specific granulomatous inflammation in the cavernous sinus or superior orbital fissure (or both). Ophthalmoparesis occurs when the cranial nerves III, IV and VI are affected by inflammation. Pupillary dysfunctions may be present and is related to involvement of the sympathetic fibers that pass through the cavernous sinus in the portion of the internal carotid artery or parasympathetic fibers around the oculomotor nerve. The involvement of the first branch of the trigeminal can cause paresthesia corresponding to the distribution from the first branch (forehead). Rarely, there may be extension of inflammation beyond the cavernous sinus or superior orbital fissure and may also affect the optic nerve. There is a good response with the use of corticosteroids and there may be spontaneous remissions. Relapses occur in 40% of cases. The disease is most common after the second decade of life. It affects both genders equally. The present study is a case report of a patient who presented with painful ophthalmoplegia of sudden onset on the right with 4 days of evolution followed by ipsilateral amaurosis after one day of onset of pain.

Surgical Treatment of Posttraumatic Ophthalmoplegia Through the Reconstruction of the Lateral Orbital Wall.

Orbital fractures are injuries frequently related to traumas of the midface. These fractures can be associated with ocular lesions, ranging from small abrasions on the cornea to serious complications such as hyphema and ocular globe rupture. Diplopia and ophthalmoplegia are common findings in orbital fractures. They can be caused by mechanical factors as bone fragments or muscle imprisonment. The aim of this study was to report a case of a 40-year patient, male showing diplopia and ophthalmoplegia due to the orbital fracture. The patient was treated by general anesthesia. It was performed a supra orbital approach and the fragments were removed. A titanium mesh to restore the orbital anatomy was installed. After 40 days of follow-up, the patient has no aesthetic or functional complaints. In orbital traumas, the ophthalmological evaluation should be performed carefully aiming to avoid ocular sequelaes. In surgical patients, the surgery should be done as early as the clinical conditions permit, to restore the ocular function.

Paralysis of the orbicularis muscle of the eye using botulinum toxin type A in the treatment for dry eye.

PURPOSE: To evaluate the efficacy of botulinum toxin type A injection to cause orbicularis eyelid muscle paralysis to improve dry eye signs and symptoms. METHODS: A prospective, randomized, comparative eye-to-eye and interventional study was performed. Patients with dry eye symptoms and positive fluorescein corneal staining were included. Randomly one eyelid received a subcutaneous injection of botulinum toxin in the medial orbicularis muscle portion of the lower eyelid, and the other eye received placebo. The subjective evaluation was achieved with a questionnaire assessing symptoms, quality of vision and ocular comfort level. The objective evaluation included the measurement of the tear film break-up time (TBUT), Schirmer's test and corneal and conjunctival staining. RESULTS: Twenty patients were included with a mean age of 59.5 years. Two weeks after the botulinum toxin injection, all patients showed a decrease in the horizontal movement of the lower eyelid when blinking. The eyes in the active treatment group showed better scores compared with the sham group in four symptoms 4 weeks after the treatment. The TBUT was higher at 1 and 3 months in the active treatment group. The corneal and conjunctival staining were significantly lower in the active treatment group at 1 and 3 months, and the Schirmer's test showed better measurements in the same group at 2 weeks, 1 month and 3 months. There were no adverse events reported. CONCLUSIONS: The injection of botulinum toxin A in the medial part of the lower eyelid is an effective and safe procedure that temporally improves some of the signs and symptoms of patients with dry eye.

Síndrome de Bickerstaff: Caso clínico / Bickerstaff syndrome: Case report

El síndrome de Guillain-Barré se define como una polirradiculoneuropatía aguda, de inicio súbito y cuyo origen es, en la mayor parte de los casos, autoinmune. Se manifiesta como un cuadro de parálisis motora fláccida, de tipo ascendente, acompañada de arreflexia, con alteraciones sensitivas o sin ellas. Es la causa más frecuente de parálisis fláccida aguda en niños previamente sanos. Presenta distintas variantes que forman parte de un mismo espectro. Una de ellas es el síndrome de Bickerstaff, caracterizado por ataxia, oftalmoplejía externa asociada a encefalopatía o hiperreflexia. Es importante el diagnóstico precoz a fin de poder instaurar rápidamente medidas de sostén y tratamiento que beneficiarán a aquellos pacientes que progresan hacia un cuadro de mayor gravedad. Presentamos el caso de un niño de 4 años de edad, previamente sano, que presenta cuadro compatible con síndrome de Bickerstaff.

Guillain-Barré syndrome is defined as an acute polyradiculoneuropathy, with sudden onset and its origin being mostly autoimmune. It is characterized by flaccid paralysis, symmetrical and ascending, together with areflexia, with or without sensory disturbances. It is the primary cause of acute flaccid paralysis in previously healthy children. Guillain-Barré syndrome presents different variants as part of the same spectrum. One of this is the Bickerstaff syndrome, characterized by ataxia, encephalopathy, hyperreflexia and external ophthalmoplegia. Early diagnosis is important with the view to establishing an early treatment that will be beneficial for those patients that progress to a more serious illness. We report the case of a 4-year-old boy who was previously healthy, and then presented symptoms that are compatible with Bickerstaff syndrome.

[Bickerstaff syndrome: Case report]. / Síndrome de Bickerstaff: Caso clínico.

Guillain-Barré syndrome is defined as an acute polyradiculoneuropathy, with sudden onset and its origin being mostly autoimmune. It is characterized by flaccid paralysis, symmetrical and ascending, together with areflexia, with or without sensory disturbances. It is the primary cause of acute flaccid paralysis in previously healthy children. Guillain-Barré syndrome presents different variants as part of the same spectrum. One of this is the Bickerstaff syndrome, characterized by ataxia, encephalopathy, hyperreflexia and external ophthalmoplegia. Early diagnosis is important with the view to establishing an early treatment that will be beneficial for those patients that progress to a more serious illness. We report the case of a 4-year-old boy who was previously healthy, and then presented symptoms that are compatible with Bickerstaff syndrome.

Ataxia, ophthalmoplegia and laryngeal stridor related to glutamic acid decarboxylase antibodies / Ataxia, oftalmoplegia e estridor laríngeo relacionados a anticorpos antidescarboxilase do ácido glutâmico

Glutamic acid decarboxylase (GAD) is the enzyme responsible for the conversion of glutamate to gamma-aminobutyric acid (GABA) in the central nervous system. The presence of anti-GAD antibody in cerebrospinal fluid and high levels in blood have been described in some neurological disorders, such as stiff person syndrome and cerebellar ataxia. It is postulated that African descent with anti-GAD may exhibit more severe neurological impairment. We report a case of a young adult African descent with cerebellar syndrome associ-ated with ophthalmoplegia and laryngeal stridor. We found in the literature relationship of ophthalmoplegia plus ataxia with anti-GAD, but no reports of these symptoms with laryngeal stridor, apparently being the first reported case.

Descarboxilase do ácido glutâmico (GAD) é a enzima responsável pela conversão do glutamato em ácido gama-aminobutírico (GABA) no sistema nervoso central. A presença do anticorpo anti-GAD no líquido cefalorraquidiano e em altos níveis no sangue tem sido descrita em alguns distúrbios neurológicos, tais como a síndrome da pessoa rígida e ataxia cerebelar. Postula-se que pacientes afrodescendentes podem apresentar comprometimento neurológico mais severo. Relatamos o caso de um adulto jovem afrodescendente com síndrome cerebelar associada a oftalmoplegia e estridor laríngeo. Encontramos na literatura relação entre a oftalmoplegia com ataxia e anti-GAD, mas nenhum relato desses sintomas com estridor laríngeo, sendo aparentemente o primeiro caso reportado.

Ataxia, ophthalmoplegia, and impairment of consciousness in a 19-month-old American boy.

A 19-month-old, white, Pennsylvanian boy, with an unremarkable medical history, presented to our hospital with a 3-week history of nonbloody, nonbilious emesis up to 5 times a day and nonbloody diarrhea. Ten days before admission, his gait became progressively unsteady, until he finally refused to walk. A day before admission, he found it difficult to move his eyes. The patient was hypoactive. History, physical and neurologic examination, blood and cerebrospinal (CSF) fluid studies, and neuroimaging studies ruled out the most frequent causes of acute ataxia. The etiology of bilateral, complete ophthalmoplegia was also taken into consideration. Magnetic resonance imaging (MRI) findings of bilateral thalami and mammillary bodies provided diagnostic clues. Additional history and specific tests established the final diagnosis and treatment plan. The patient improved to a normal neurologic state. This case provides important practical information about an unusual malnutrition cause of acute ataxia, particularly in young children of developing countries.

A 12-year-old African American girl with subacute bilateral ophthalmoplegia.

A twelve-year-old African-American female presented with two week history of progressively worsening headache and fatigue, and vision difficulties for the past week. The physical examination was normal. The neurological evaluation was normal, except for cranial nerves (CN) testing, which showed bilateral restriction of adduction (CN III) and up gaze (CN IV) motions, vertical nystagmus, and left side facial paresis of central origin (CN VII). The bilateral exotropia and ophthalmoplegia are characteristics of WEBINO (Wall-Eyed Bilateral Intranuclear Ophthalmoplegia) syndrome, associated to a brain stem structural lesion. The following causes were evaluated and ruled out: tumor, infection, ischemic stroke, non-infectious inflammation. Pediatric Acquired Demyelinating Syndromes were then considered. Neuromyelitis Optica was ruled out in the absence of neuritis and normal spinal cord MRI. The differential diagnosis between Clinically Isolated Syndrome and Acute Demyelinating Encephalomyelitis, causing an isolated brain stem syndrome, is discussed.

[Validation of the ice pack test in ophthalmoparesis due to myasthenia gravis]. / Validacion de la prueba de hielo en oftalmoparesia por miastenia grave.

INTRODUCTION: Myasthenia gravis is an autoimmune disease of the neuromuscular junction that presents clinically as fluctuating weakness of skeletal muscles, as of the ocular region (myasthenia ocular). AIM: To demonstrate that the sensitivity and specificity of the ice pack test are high, in the differential diagnosis of palpebral ptosis and ophthalmoparesis for myasthenia gravis and myasthenia ocular. SUBJECTS AND METHODS: Observational, analytical, and non-randomized study of 43 subjects, 21 with myasthenia gravis and 22 controls. All patients received a glove with ice on your upper eyelids affected for 2 minutes, after which we assessed the degree of improvement in palpebral ptosis and ophthalmoparesis. All patients had repetitive nerve stimulation study. RESULTS: We analyzed 36 patients, 18 patients with myasthenia gravis or myasthenia ocular and 18 controls. All patients had palpebral ptosis but ophthalmoparesis only 20 of them. Ice pack test for ophthalmoparesis showed a sensitivity of 83%, specificity 100%, positive predictive value (PPV) of 100% and negative predictive value (NPV) of 80% in the diagnosis of myasthenia gravis. Ice pack test for palpebral ptosis was determined a sensitivity of 89%, specificity 100%, PPV of 100% and NPV of 90%. For repetitive nerve stimulation was calculated a sensitivity of 61%, specificity of 83%, PPV of 79% and NPV of 68%. CONCLUSION: Ice pack test, both palpebral ptosis and ophthalmoparesis is a simple test, safe, cheap, fast and reliable to be used routinely in patients suspected of palpebral ptosis and/or ophthalmoparesis due to myasthenia gravis, and which has a high validity, safety, and reproducibility as a diagnostic test.

TITLE: Validacion de la prueba de hielo en oftalmoparesia por miastenia grave.Introduccion. La miastenia grave es una enfermedad autoinmune de la union neuromuscular que se presenta clinicamente como debilidad fluctuante de los musculos estriados, como los de la region ocular (miastenia ocular). Objetivo. Demostrar que la sensibilidad y la especificidad de la prueba de hielo son altas en el diagnostico diferencial de la oftalmoparesia y ptosis palpebral por miastenia grave y miastenia ocular. Sujetos y metodos. Estudio observacional, analitico, no aleatorizado, de una muestra de 43 sujetos, 21 con miastenia grave y 22 controles. A todos los pacientes se les aplico un guante con hielo sobre sus parpados superiores afectados durante dos minutos, despues de los cuales se evaluo el grado de mejoria de la ptosis palpebral y la oftalmoparesia. Todos tenian estudio de estimulacion nerviosa repetitiva. Resultados. Se analizaron 36 pacientes, 18 con miastenia grave u ocular y 18 controles. Todos presentaron ptosis palpebral y solo 20 de ellos oftalmoparesia. La prueba de hielo para la oftalmoparesia mostro una sensibilidad del 83%, especificidad del 100%, valor predictivo positivo (VPP) del 100% y valor predictivo negativo (VPN) del 80% en el diagnostico de la miastenia grave. Para la ptosis palpebral, se determino una sensibilidad del 89%, especificidad del 100%, VPP del 100% y VPN del 90%. Para la estimulacion nerviosa repetitiva se calculo una sensibilidad del 61%, especificidad del 83%, VPP del 79% y VPN del 68%. Conclusion. La prueba de hielo es sencilla, segura, economica, rapida y fiable para utilizarse de rutina en pacientes con sospecha de ptosis u oftalmoparesia por miastenia grave, ya que tiene una alta validez, seguridad y reproducibilidad como prueba diagnostica.

Síndrome anti-GQ1b: Descripción de cuatro pacientes y revisión de la literatura / Anti-GQ1b syndrome: Report of four cases

Anti-GQ1b syndrome includes Miller Fisher Syndrome (MFS), Guillain Barré Syndrome (GBS), Bickerstaff`s brain stem encephalitis (BBE) and Acute Ophtamoplegia (AO). We report four patients aged 16 to 76 years, with anti-GQ1b syndrome. All presented with MFS, one of them evolved to GBS pharyngeal-cervical-brachial variant and other to GBS with BBE. All had a previous history of diarrhea or upper respiratory tract infection. All had positive anti-GQ1b serum antibodies. Both brain magnetic resonance imaging and cerebrospinal fluid analysis were normal. Electrophysiology studies were compatible with a demyelinating disease. Two patients needed airway protection with an orotracheal tube and developed dysautonomia. All four patients were treated with immunomodulation. On the sixth month follow-up, patients had only minimal alterations in the neurological examination.

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(AU)

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(AU)

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

[Anti-GQ1b syndrome: report of four cases]. / Síndrome anti-GQ1b: Descripción de cuatro pacientes y revisión de la literatura.

Anti-GQ1b syndrome includes Miller Fisher Syndrome (MFS), Guillain Barré Syndrome (GBS), Bicker staff`s brain stem encephalitis (BBE) and Acute Ophtamoplegia (AO). We report four patients aged 16 to 76 years, with anti-GQ1b syndrome. All presented with MFS, one of them evolved to GBS pharyngeal-cervical-brachial variant and other to GBS with BBE. All had a previous history of diarrhea or upper respiratory tract infection. All had positive anti-GQ1b serum antibodies. Both brain magnetic resonance imaging and cerebrospinal fluid analysis were normal. Electrophysiology studies were compatible with a demyelinating disease. Two patients needed airway protection with an orotracheal tube and developed dysautonomia. All four patients were treated with immunomodulation. On the sixth month follow-up, patients had only minimal alterations in the neurological examination.

Ophthalmologic outcome of direct and indirect carotid cavernous fistulas.

Carotid cavernous fistulas (CCFs) can be classified as direct and indirect, depending on their flow rates and their etiology. Both forms can cause the same characteristic ophthalmological symptoms and signs. We analyzed these ocular characteristics and determined the prognostics factors associated with treatment outcome. Forty-seven patients with an angiographically confirmed diagnosis of CCF, a preoperative ophthalmic evaluation and at least one ophthalmic sign or symptom at the initial presentation were retrospectively evaluated. The patients were followed-up ophthalmically until the end of treatment, and the complications and the remaining ophthalmological signs and symptoms were then recorded. The patients' ages ranged from 13 to 89 years, with an average of 55.78 (±20.73) years, and a predominance of 28 female (57.8 %) patients. The patients with a direct CCF had a lower average age (p = 0.02). The most common symptoms were blurred vision in 17 (36.2 %) and proptosis in 37 (78.7 %) patients. Elevated intraocular pressure (IOP) was more prevalent in patients with an indirect CCF (p = 0.02). Thrill was more prevalent in patients with direct CCF (p = 0.01). The presence of an initial decrease of visual acuity at the first ophthalmic evaluation was significantly associated with the persistence of ocular symptoms after fistula treatment (odds ratio 3.33). In conclusion our study shows a slight difference in ophthalmic symptoms among patients with different types of fistula. Elevated IOP was significantly associated with indirect fistulas, whereas thrill was significantly associated with direct fistulas. The presence of an initial decrease of visual acuity was significantly associated with a worse ophthalmic prognosis.