Síndrome de Tolosa-Hunt una extraña causa de oftalmoplejía dolorosa: reporte de caso / Tolosa-Hunt syndrome a strange cause of painful ophthalmoplegia: case report

RESUMEN INTRODUCCIÓN: El síndrome de Tolosa-Hunt (STH) se caracteriza por una oftalmoplejía dolorosa, de etiología desconocida. De acuerdo con los hallazgos histopatológicos, se ha descrito la formación de un tejido granulomatoso en los senos cavernosos. PRESENTACIÓN DEL CASO: Una mujer de 22 años con cuadro clínico de 3 semanas de evolución caracterizado por cefalea hemicránea derecha, dolor ocular derecho y diplopía. Su examen físico evidenció la existencia de una oftalmoplejía derecha; la resonancia magnética (RM) de silla turca demostró engrosamiento y realce en la región del seno cavernoso derecho. Se presenta el caso clínico de una causa inusual de oftalmoplejía dolorosa. DISCUSIÓN: La oftalmoplejía dolorosa tiene múltiples diagnósticos diferenciales que incluyen causas neoplá-sicas, vasculares, inflamatorias e infecciosas que pueden afectar el seno cavernoso o la fisura orbitaria superior. El STH, que es una causa rara de oftalmoplejía dolorosa, sigue siendo un diagnóstico de exclusión. Por otra parte, se caracteriza por tener una adecuada respuesta al tratamiento con glucocorticoides. CONCLUSIÓN: La negatividad en las investigaciones de las etiologías de oftalmoplejía, los hallazgos imagenológicos en la RM y la adecuada respuesta cínica con el uso de los corticoides permiten confirmar el diagnóstico. No debería ser necesaria la biopsia del seno cavernoso ante la sospecha de STH con adecuada respuesta al manejo corticoide.

ABSTRACT INTRODUCTION: Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia of unknown etiology, the formation of a granulomatous tissue in the cavernous sinuses has been described in histopatho-logical findings. CASE PRESENTATION: A 22-year-old woman presenting with 3 weeks of right sided headache, right eye pain and diplopia. Physical examination revealed the existence of a right ophthalmoplegia; magnetic resonance imaging (MRI) of the sella turcica showed thickening and enhancement of the right cavernous sinus. A clinical case of an unusual cause of painful ophthalmoplegia is presented. DISCUSSION: Painful ophthalmoplegia has multiple differential diagnoses that include neoplastic, vascular, inflammatory and infectious causes that can affect the cavernous sinus or the superior orbital fissure. STH is a rare case of painful ophthalmoplegia that continues to be a diagnosis of exclusion characterized by an adequate response to treatment with glucocorticoids. CONCLUSION: The negativity of the investigations for the causes of ophthalmoplegia, the imaging findings in the MRI and the adequate response to corticosteroids allows the diagnosis to be made. Biopsy should not be necessary when THS is suspected and there is an adequate response to corticosteroid management.

Fibrosis congénita de los músculos extraoculares / Congenital Fibrosis of Extraocular Muscles

La fibrosis congénita de los músculos extraoculares se caracteriza por una oftalmoplejía externa congénita, no progresiva, generalmente bilateral, con ptosis y alteración de los movimientos oculares. Existen varios tipos en dependencia del gen afectado y puede estar acompañada de hallazgos adicionales tanto oculares como generales. Para el manejo de los casos se realiza cirugía de la ptosis, alineación ocular y corrección del torticolis, además de su corrección óptica y rehabilitación para maximizar el resultado visual. Con el objetivo de estar al día sobre esta enfermedad se realiza una revisión de las publicaciones de los últimos cinco años en este tema. Actualmente no hay tratamientos que puedan restaurar la funcionalidad completa y el rango de movimiento de los músculos extraoculares, pero mejorar su funcionalidad visual es primordial(AU)

Congenital fibrosis of the extraocular muscles is characterized by congenital external ophthalmoplegia, nonprogressive, usually bilateral, with ptosis and altered eye movements. There are several types depending on the affected gene and it may be accompanied by additional ocular or general findings. For the management of these cases, ptosis surgery, ocular alignment and torticollis correction are performed, as well as optical correction and rehabilitation to maximize visual outcome. In order to be updated about this disease, a review of the publications on this subject within the last five years is carried out. Currently, there are no treatments that can restore full functionality and range of motion of the extraocular muscles, but improving their visual functionality is paramount(AU)

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.

Manifestações oftalmológicas em paciente com aneurisma gigante de carótida interna / Ophthalmological manifestation in patient with gigantic aneurysm of the internal carotid

RESUMO Os aneurismas intracranianos são dilatações em segmentos arteriais que irrigam o sistema nervoso central. Acometem 2% da população e as alterações oftalmológicas podem ser as primeiras manifestações do quadro. O objetivo deste relato foi descrever um caso de aneurisma de artéria carótida interna que cursou com restrição da movimentação ocular, alteração do reflexo fotomotor, ptose palpebral, dor facial e cervical. O diagnóstico foi confirmado pela identificação do aneurisma por meio do exame de angiografia cerebral. Foi realizado teste de oclusão por balão, cujo resultado positivo possibilitou a oclusão total da artéria carótida interna por meio de ligadura cirúrgica, procedimento este realizado com sucesso.

ABSTRACT Intracranial aneurysms are dilations in segments of the arteries that irrigate the central nervous system. They affect 2% of the population and the ophthalmologic disorders may be the first evidence in the clinical examination. The aim of the report is to describe a case of an internal carotid artery aneurysm that showed restrictions of ocular movements, change of pupillary light reflex, palpebral ptosis, facial, and cervical pain. This diagnosis was confirmed by the identification of the aneurysm through angiography. A balloon occlusion test was performed, and its positive result made a complete occlusion of the Internal Carotid Artery possible through surgery ligation, procedure that was successful.

Complex strabismus: a case report of hypoplasia of the third cranial nerve with an unusual clinical presentation / Estrabismo complexo: um caso relacionado à hipoplasia do terceiro nervo craniano com apresentação clínica incomum

ABSTRACT Congenital cranial dysinnervation disorders are a group of complex strabismus syndromes that present as congenital and non-progressive ophthalmoplegia. The genetic defects are associated with aberrant axonal targeting onto the motoneurons, development of motoneurons, and axonal targeting onto the extraocular muscles. We describe here the surgical management of a 16-year-old boy who presented with complex strabismus secondary to hypoplasia of the third cranial nerve and aberrant innervation of the upper ipsilateral eyelid.

RESUMO Os distúrbios de inervação craniana congênita en­globam um grupo de síndromes associadas a estrabismos complexos, que se apresentam como oftalmoplegia congênita e não progressiva e são frequentemente herdadas. Os defeitos dos genes estão associados a erros no desenvolvimento ou direcionamento axonal dos motoneurônios, e erros no direcionamento axonal para os músculos extraoculares. Este caso descreve o caso de um menino que apresenta estrabismo complexo secundário à hipoplasia do terceiro nervo craniano e inervação aberrante da pálpebra superior ipsilateral, bem como o resultado após a correção cirúrgica.

Total remission of Tolosa-Hunt Syndrome with single-dose of infliximab / Remissão total da Síndrome de Tolosa-Hunt com dose única de infliximabe

Abstract Tolosa-Hunt syndrome is a painful ophthalmoplegia caused by non-specific granulomatous inflammation, corticoid-sensitive, of the cavernous sinus. The etiology is unknown. Recurrences are common. The diagnosis is made by exclusion, and a variety of other diseases involving the orbital apex, superior orbital fissure and cavernous sinus should be ruled out. This study reports a case of a 29-year-old woman, diagnosed with Tolosa-Hunt Syndrome, who presented ophthalmoparesis and orbital pain. She had poor response to corticotherapy and developed colateral effects, so she was treated with single infliximab dose immunosuppression, evolving total remission of the disease.

Resumo A Síndrome de Tolosa-Hunt é uma oftalmoplegia dolorosa causada por uma inflamação granulomatosa não específica, sensível a corticoides, do seio cavernoso. A etiologia é desconhecida. Recorrências são comuns. O diagnóstico é feito por exclusão, devendo ser descartada uma variedade de outras doenças que envolvem o ápice orbitário, fissura orbitária superior e seio cavernoso. O presente estudo trata-se de um relato de caso de uma paciente de 29 anos, diagnosticada com Síndrome de Tolosa-Hunt, que apresentou paresia e dor em região orbital. Obteve resposta pouco efetiva a corticoterapia e desenvolveu efeitos colaterais, por isso foi tratada com dose única de infliximabe, evoluindo com remissão total da doença.

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.

Síndrome da fissura orbital superior associada a traumatismos craniomaxilofaciais / Superior orbital fissure syndrome associated with craniomaxillofacial traumatism

Introdução: A Síndrome da Fissura Orbital Superior (SFOS) é uma condição de ocorrência rara, inicialmente descrita por Hirchfield em 1858. Caracterizada pela presença de oftalmoplegia, ptose da pálpebra superior e midríase, podendo ocorrer parestesia da pálpebra superior e da região frontal, associada à lesão dos pares de nervos cranianos: oculomotor, troclear, abducente (III, IV e VI) e, por vezes, o nervo trigêmeo (V). A identificação da SFOS é importante, visto que sua incidência é rara no trauma, e sua identificação pode ajudar a direcionar o tratamento de forma mais adequada. Relato de caso: O presente trabalho descreve dois casos da SFOS associados a traumas craniofaciais, cita as possíveis etiologias relacionadas a essa síndrome e descreve a situação de trauma agudo. Considerações Finais: A avaliação das condições sistêmicas do paciente e de exames complementares, como tomografias computadorizadas, auxilia o diagnóstico diferencial entre patologias que acometem a região orbital e a base de crânio, fraturas e traumas craniofaciais. A identificação da SFOS no trauma agudo orienta a abordagem imediata ou precoce quando indicada, como nos casos de hematomas retrobulbares ou em grandes deslocamentos ósseos maxilofaciais com necessidade de redução cirúrgica. Nos casos com indicação de abordagem tardia, as fraturas craniofaciais são tratadas de forma conservadora, e o paciente é encaminhado para atendimento especializado... (AU)

Introduction: The superior orbital fissure syndrome (SOFS) is a rare condition and initially described by Hirchfield in 1858. Characterized by the presence of ophthalmoplegia, upper eyelid ptosis and mydriasis, and there may be paresthesia of the upper eyelid and forehead associated by the injury of the cranial nerves like: oculomotor, trochlear, abducens (III, IV and VI) and sometimes the trigeminal nerve (V). The identification of SOFS is important, since its incidence is rare in trauma, and its identification may help to target the treatment more adequately. Case report: The present study describes two cases of SFOS associated with craniofacial trauma, cites the possible etiologies related to this syndrome and describes the situation of acute trauma. Final considerations: The evaluation of the patient's systemic conditions and complementary exams, such as computed tomography, help the differential diagnosis between pathologies that affect the orbital region and the skull base, and fractures and traumatic head injuries. The identification of SFOS in acute trauma guides the immediate or early approach when indicated, as in cases of retrobulbar hematomas or large maxillofacial bone dislocations requiring surgical reduction. In cases with indication for late approach, craniofacial fractures are treated conservatively and the patient is referred for specialized care... (AU)

Tolosa-Hunt Syndrome / Síndrome de Tolosa-Hunt

Abstract We present a case study of Tolosa-Hunt syndrome, a rare idiopathic disease, that is characterized by painful ophthalmoplegia of strong intensity, generally affecting the third cranial nerve, and, less frequently, the fourth or the sixth cranial nerves. Usually, there is no visual impairment. The treatment is based on corticosteroids with satisfactory results in most cases although recurrences can occur at intervals from months to years. In our case, the patient presented sudden pain periorbital associated with cranial nerves involvement, which have an excellent outcome after treatment with corticosteroids, with no relapses until today.

Resumo Nós apresentamos um caso de Síndrome de Tolosa-Hunt, uma doença idiopática rara, caracterizada por oftalmoplegia dolorosa, de forte intensidade, geralmente afetando o terceiro par craniano, e, menos frequentemente, o quarto e/ou o sexto par. Geralmente, não há acometimento visual. O tratamento é feito com base em corticóides com resultados satisfatórios na maior parte dos casos, embora recorrências possam ocorrer após meses a anos. Relatamos caso de paciente masculino de 36 anos, com diagnóstico prévio de sífilis congênita e esquizofrenia, com dor periocular súbita associada com envolvimento de pares cranianos, que teve melhora total após vigência de corticoterapia, sem recorrências até a presente data.

Isolated abducens nerve palsy treated by immunoadsorption in a patient with diarrhea-associated hemolytic uremic syndrome / Parálisis ocular aislada del sexto par craneal tratada con inmunoadsorción en un paciente con síndrome urémico hemolítico asociado a diarrea

Shiga toxin-producing Escherichia coli (STEC) that causes a prodromal hemorrhagic enteritis is the main cause of hemolytic uremic syndrome (HUS) particularly in pediatric patients. It is characterized by acute kidney injury with microangiopathic hemolytic anemia and thrombocytopenia. The kidney and brain are the two major target organs, and neurological involvement is the most frequent cause of mortality. The time delay between bloody diarrhea and neurological symptoms ranges from few days to a month. Neurological disorders include disturbances in cognitive functions, focal neurological signs, epileptic seizures, myoclonus and neuropsychiatric symptoms. Cerebral magnetic resonance imaging reveals various patterns of hyperintensities distributed through cerebral matter or may be totally normal even the patient has severe neurological involvement. Electroencephalography usually show generalized or focal slowing of the background activity, spikes or sharp waves despite being normal in around 20% of patients. We present here an adult male patient referred to our center with requirement of hemodialysis due to diarrhea-associated HUS complicated by acute kidney injury. Later during the course of plasma exchange therapy the patient developed an isolated abducens nerve palsy. Complete renal recovery was achieved by plasma exchange therapy but abducens palsy remedied rescue introduction of immunoglobulin G (IgG) depletion by immunoadsorption

Escherichia coli, productor de toxina Shiga (STEC), que causa una enteritis hemorrágica en fase prodrómica, es la principal causa del síndrome urémico hemolítico (SUH), particularmente, en pacientes pediátricos. Se caracteriza por una lesión renal aguda con anemia hemolítica microangiopática y trombocitopenia. El riñón y el cerebro son los dos órganos principales a los que ataca, y la afectación neurológica es la causa más frecuente de mortalidad. El tiempo que transcurre entre la aparición de diarrea sanguinolenta y los síntomas neurológicos varía entre pocos días y un mes. Los trastornos neurológicos incluyen alteraciones en las funciones cognitivas, signos neurológicos focales, ataques epilépticos, mioclonías y síntomas neuropsiquiátricos. La resonancia magnética de cerebro revela varios patrones de hiperintensidades distribuidas a través de la materia cerebral o puede ser totalmente normal incluso si el paciente tiene un compromiso neurológico severo. El electroencefalograma generalmente muestra una disminución generalizada o focal de la actividad de fondo, picos u ondas agudas, a pesar de ser normal en alrededor del 20% de los pacientes. Presentamos un paciente adulto de sexo masculino, derivado a nuestro centro para ser tratado con hemodiálisis debido a SUH asociado a diarrea, complicado por insuficiencia renal aguda. Luego, durante el transcurso de la terapia de intercambio de plasma, el paciente desarrolló una parálisis ocular aislada del sexto par craneal. Se logró una recuperación renal completa por medio de la terapia de intercambio plasmático; no obstante, la parálisis del nervio motor ocular externo remedió la disminución de la inmunoglobulina G (IgG) mediante el tratamiento de rescate de inmunoadsorción

Oftalmoplegía externa congénita parcial y bilateral en un adolescente / Partial and bilateral congenital external ophthalmoplegia in an adolescent

Se presenta el caso clínico de un paciente de 18 años de edad, quien fue atendido en la consulta de estrabología del Hospital Oftalmológico Amistad Argelia-Cuba de la República de Argelia por presentar fotofobia, ptosis palpebral, mala visión y estrabismo divergente. Se le hizo un examen oftalmológico completo, prueba de prisma, luces de worth y se constató que tenía una oftalmoplejía congénita externa parcial y bilateral con ambliopía, sin manifestaciones neurológicas. Se le indicó tratamiento con vitaminas y no se realizó propuesta quirúrgica debido a la cantidad de músculos afectados y el gran riesgo de una diplopía residual

The case report of an 18 years patient is presented who was assisted in the estrabism service of Amistad Argelia-Cuba Ophthalmologic Hospital in the Republic of Algeria due to photophobia, ptosis palpebral, poor vision and divergent strabismus. A complete ophthalmologic exam was carried out, prism test, worth lights and it was verified that he had a partial and bilateral external congenital ophthalmoplegia with amblyopia, without neurological manifestations. Treatment with vitamins was indicated and there was no surgical proposal due to the quantity of affected muscles and the great risk of a residual diplopia

Paralisia da mirada lateral relacionada a cavernoma da ponte / Horizontal gaze palsy due to pontine cavernous malformation

Paralisia da mirada lateral por hemorragia pontina, secundária a cavernoma, o qual apresenta prevalência estimada de 0,4% a 0,6%. O risco de sangramento de tal entidade é considerado baixo (0,1 a 3,1% ao ano). Relatamos o caso de paciente feminino, 38 anos, admitida no setor de emergência com quadro de cefaleia, vertigem, hipertensão (PA 200/120mmHg), rebaixamento do nível de consciência (Glasgow 13) e paralisia do olhar conjugado lateral à direita, com 24 horas de evolução. A tomografia de crânio revelou hemorragia pontina e a angiorressonância evidenciou a presença de cavernoma no tegmento pontino. Foi optado por tratamento conservador e a paciente evoluiu com síndrome do encarceramento (Locked-in syndrome) por piora da hemorragia e edema perilesional. Os cavernomas são malformações vasculares que podem cursar assintomáticas e passar despercebidas pelos exames de imagem até o evento hemorrágico. Apesar de raro, quando este ocorre no tronco encefálico pode apresentar alta morbimortalidade. Isso reforça a importância de se avaliar a chance de sangramento dessas lesões e instituir a melhor abordagem para cada caso. (AU)

Horizontal gaze palsy due to hemorrhage of a pontine cavernous malformation, which prevalence ranges from 0.4% to 0.6%. The risk of bleeding is considered low (0.1 to 3.1% per year). It is reported a case of a 38-year-old woman admitted to the emergency department with headache, vertigo, hypertension (200/120mmHg), decreased level of consciousness (Glasgow 13) and horizontal gaze palsy to the right side, that started suddenly 24h before admission. CT scan revealed a pontine hemorrhage and MRI showed the presence of a cavernous malformation in the pontine tegmentum. Conservative treatment was chosen and the patient developed locked-in syndrome due to worsening bleeding and perilesional edema. Cavernoma are vascular malformations that can be asymptomatic and remain undetected by imaging until the hemorrhagic event. Although rare, when bleeding occurs in the brain stem, it can cause high morbidity and mortality. This report reinforces the importance of evaluation these injuries' bleeding risk and establish the best approach for each case. (AU)

Síndrome de Kearns Sayre: reporte de dos casos / Kearns Sayre Syndrome: Report of two cases

RESUMEN El síndrome de Kearns Sayre (SKS) es una rara mitocondriopatía causada en la mayoría de los casos por deleciones en el ADN mitocondrial, usualmente no heredada y de ocurrencia espontánea. Se caracteriza por disfunción multiorgánica de manifestación antes de los veinte años de edad. Fue descrito por Thomas Kearns y George Sayre, quienes reportaron la tríada de oftalmoplejía externa, retinopatía pigmentaria y bloqueos de la conducción cardíaca, siendo esta última alteración determinante en el pronóstico, así como el número de órganos afectados. Presentamos dos casos de Síndrome de Kearns Sayre con manifestaciones clínicas oftalmológicas en su debut, asociados a debilidad muscular, similar a los casos típicos reportados en la literatura, donde la mayoría de los pacientes presentan compromiso ocular. En la literatura colombiana existen pocos reportes de este síndrome, por lo tanto, esta presentación contribuye al conocimiento de la entidad en nuestro medio, la patología presenta una triada clínica específica, pero a la vez muestra una afección multisistémica que requiere un alto índice de sospecha por parte de las especialidades a las cuales el paciente puede acceder en su cuadro inicial.

SUMMARY The Kearns-Sayre syndrome is a rare mitochondrial disease caused, in most cases by deletions in mitochondrial DNA, usually not inherited and spontaneously occurring. It is characterized by multiorganic dysfunction that typically develops before the age of twenty. Described by Thomas Kearns and George Sayre who reported a case with presence of the triad of external ophthalmoplegia, pigmentary retinopathy and cardiac conduction blocks, the latter being decisive alteration in the forecast, as well as the number of affected organs. We report two cases of Kearns-Sayre syndrome debuting with ophthalmological clinical manifestations, associated with muscle weakness, similar to typical cases reported in the literature where most patients have eye involvement. The Colombian literature there are very few reported cases of this syndrome, so this presentation contributes to the knowledge of this entity in our environment, taking into account that this disease presents a specific clinical triad but both shows multisystem condition, requiring a high index of suspicion on the part of various specialties to which the patient can be accessed.

Síndrome de Miller-Fisher en edad pediátrica: un debut inusual / Miller-Fisher syndrome in pediatric age:an unusual debut

Miller-Fisher syndrome is a peripheral neuropathy characterized by ophthalmoplegia, areflexia and ataxia. The incidence of this syndrome is estimated at 1 in a million, and just 14% of these occur on a pediatric age, making it an infrequent diagnosis in pediatrics. In this article we report a case of Miller-Fisher syndrome with an unusual onset on a pediatric patient along with infrequent radiological findings. (AU)

Traumatic Oculomotor Nerve Avulsion after Mild Head Injury

The authors describe a 37-year-old female who suffered a mild head injury after a car accident. She was found with an initial Glasgow coma scale score of 15. On further inspection, complete right ophthalmoplegia was observed. Initial computerized tomography (CT) scan of the head was normal, but magnetic resonance imaging showed right oculomotor nerve avulsion. The patient was discharged from the hospital without any improvement in complete ophthalmoplegia. To our knowledge, this is the first radiographically documented case of oculomotor nerve root avulsion with associated irreversible oculomotor nerve palsy after mild head injury. Considering the poor prognosis for recovery of the nerve function, an appropriate counseling should be provided to the patient and family. Neurosurgical techniques for attempting nerve reconstruction have yet to be investigated but could be a new area for clinical and surgical research.

Os autores descrevem o caso de uma mulher de 37 anos, vítima de acidente automobilístico, com traumatismo craniano leve. No exame inicial, a pontuação da paciente estava em 15, segundo a escala de coma de Glasgow. Na inspeção adicional, observou-se oftalmoplegia completa à direita. A tomografia de crânio da admissão estava normal, porém a ressonância magnética de crânio evidenciou avulsão do nervo oculomotor direito. A paciente recebeu alta sem nenhuma melhora no quadro de oftalmoplegia. Até onde sabemos, esse é o primeiro caso documentado radiograficamente de avulsão da raiz do nervo oculomotor associada a paralisia irreversível do mesmo após traumatismo craniano leve. Considerando o prognóstico de recuperação ruim, aconselhamento apropriado deve ser feito a paciente e familiares. Técnicas para reconstrução desse nervo ainda não foram investigadas, mas podem vir a ser uma nova área de pesquisa clínica e cirúrgica.

Oftalmoplejía asociada a neurotoxicidad por veneno de serpiente: presentación de un caso y revisión de la literatura / Ophthalmoplegia associated with snake venom neurotoxicity: case report and literature review

Resumen El accidente ofídico es la lesión resultante de la mordedura de una serpiente, en el caso de ofidios venenosos se puede producir inoculación del veneno, constituyéndose además en ofidiotoxicosis. Esta entidad ha sido declarada por la Organización Mundial de la Salud como una enfermedad tropical olvidada. En el caso de Colombia constituye un problema aún vigente con una incidencia nacional de 9.7 casos por 100.000 habitantes, según datos reportados en el 2012. Las manifestaciones clínicas y la evolución de los pacientes se encuentran en relación directa con la composición del veneno de la serpiente, el cual es una especie específica. El propósito del presente artículo es describir, por medio de un caso clínico las características semiológicas y fisiopatológicas de un caso de ofidiotoxicosis con complicaciones neurológicas, haciendo una revisión de la literatura actual. Presentamos el caso de un paciente masculino, de 54 años de edad, que sufrió accidente ofídico grave, se discute con detalle las situaciones que pudieron haber contribuido al desenlace del paciente.

Summary The ophidian accident is the injury resulting from the bite of a snake, in the case of venomous snakes venom inoculation may occur, constituting itself in ophidiotoxicosis. This entity has been declared by the world health organization as a forgotten tropical disease. In the case of Colombia, this is still a problem, with a national incidence of 9.7 cases per 100,000 inhabitants, according to data reported in 2012. The clinical manifestations and evolution of the patients are directly related to the composition of the venom of the Snake which is specific species. The purpose of the present article is to describe, through a clinical case, the semiological and pathophysiological characteristics of a case of opiotoxicosis with neurological complications, making a review of the current literature. We present the case of a 54-year-old male patient who presented a severe ophidian accident, discussing in detail the situations that might have contributed to the outcome of the patient.

Manifestaciones neuroftalmológicas en enfermedades neuroendocrinas / Neurophthalmological findings in neuroendocrine diseases

La neuroftalmología es considerada una especialidad frontera por su vínculo con otras múltiples especialidades médicas, clínicas y quirúrgicas. Los tumores de hipófisis son de tal importancia desde el punto de vista neuroftalmológico que son tratados separadamente en casi todos los textos de la especialidad. El objetivo de la presente revisión es aproximarnos, sobre la base de los conocimientos actuales, a los hallazgos neuroftalmológicos de algunas enfermedades neuroendocrinas, haciendo hincapié en dos temas fundamentales: los adenomas hipofisarios y el síndrome de neoplasias endocrinas múltiples, y demostrar además el importante papel del neuroftalmólogo en estas dos entidades. Quedan aquí evidenciadas las variadas manifestaciones neuroftalmológicas de estas entidades neuroendocrinas, el importante cometido del oftalmólogo en el diagnóstico y el ulterior seguimiento de los pacientes con adenomas hipofisarios, así como lo decisiva que puede resultar su actuación en la identificación de los hallazgos asociados al síndrome de neoplasias endocrinas múltiples tipo 2 B(AU)

Neurophthalmology is considerate frontier speciality because of their relationships with many other medical and surgical specialities. Pituitary tumors are so important from neuro-ophthalmological point of view that they appear as special chapter in text books. Our objective in the present review is to refer the neurophthalmological finfings in two main entities: pituitary adenomas and multiple endocrine neoplasia syndromes and to establish the important role of neuro-ophthalmologist in those neuroendocrine conditions. It was proved the diversity of neurophthalmological findings in neuroendocrine entities, the important role of ophthalmologist in diagnosis and pursuance of patients with pituitary adenomas and its peremptory role in screening finding associated to 2 B type multiple endocrine neoplasia syndrome(AU)

Síndrome de Tolosa-Hunt / Tolosa-Hunt syndrome

RESUMO A Síndrome de Tolosa Hunt é uma doença rara, cuja etiopatogenia é desconhecida. Apresenta-se como uma oftalmoplegia dolorosa de um ou mais nervos cranianos oculomotores, que regride espontaneamente e responde bem ao tratamento com corticoides. O presente estudo trata-se de um relato de caso de um paciente que apresentou seguidos casos de oftalmoplegias dolorosas, envolvendo o nervo oculomotor e o abducente sendo tratado com corticoesteroides obteve uma resposta dramática. Objetiva-se ainda descrever as características fisiopatológicas, clínicas, o diagnóstico diferencial, visto que é um diagnóstico de exclusão, e medidas terapêuticas instituídas de acordo com o International Headache Society 2004 (ISH-2004) através da apresentação do caso clínico conduzido com as normas do estudo supracitado.

ABSTRACT Tolosa Hunt syndrome is a rare disease, whose etiology is unknown. It presents as a painful ophthalmoplegia of one or more oculomotor cranial nerves, which resolves spontaneously and responds well to treatment with corticosteroids. This study is a case report of a patient who had followed painful oftalmoplegias cases involving the oculomotor and abdcens nerves being treated with corticosteroids, obtaining a dramatic response. Another goal is to describe the pathophysiological, clinical, differential diagnosis, since it is a diagnosis of exclusion, and the therapeutic measures adopted according to the International Headache Society 2004 (ISH-2004) by presenting the case study conducted with the standards the study cited above.

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.