Síndromes paraneoplásicos en oftalmología / Paraneoplastic syndromes in ophthalmology

Los síndromes paraneoplásicos consisten en la afectación de órganos y tejidos alejados de un tumor primario, y que no son consecuencia directa de la invasión tumoral ni de sus metástasis. Se sabe que en su fisiopatología desempeñan un papel importante la autoinmunidad y la síntesis de autoanticuerpos debido a un proceso de mimetismo molecular. Los síndromes paraneoplásicos de afectación oftalmológica son una enfermedad poco frecuente, pero es importante reconocerlos clínicamente debido a que en algunas ocasiones los síntomas derivados preceden al diagnóstico de la neoplasia de base. El tumor más frecuentemente relacionado con esta enfermedad es el carcinoma microcítico pulmonar, pero también existe relación con otras etiologías tumorales como el timoma, los tumores ginecológicos o el neuroblastoma en niños. Los síndromes paraneoplásicos de afectación oftalmológica pueden dividirse entre los que afectan a la vía visual aferente, como la retinopatía asociada al cáncer, la retinopatía asociada al melanoma o la neuropatía óptica paraneoplásica; o a la vía visual eferente, como las pupilas tónicas bilaterales, la miastenia gravis, el síndrome de Lambert-Eaton o la degeneración cerebelosa paraneoplásica. Cada vez se conocen más autoanticuerpos relacionados y su positividad es de ayuda en la práctica clínica, pero la negatividad no excluye el diagnóstico. Aunque su evolución y pronóstico va ligado al de la enfermedad causal, en algunos casos el tratamiento específico, habitualmente mediante terapia inmunosupresora puede ayudar a mejorar la calidad de vida de estos pacientes (AU)

Paraneoplastic syndromes consist on systemic manifestations associated with certain cancers which are not a direct consequence of tumor invasion or its metastases. It is known that autoimmunity and autoantibody synthesis play an important role in its pathophysiology due to a process of molecular mimicry. Paraneoplastic syndromes in ophthalmology are rare, but it is important to recognize them clinically because in some cases symptoms preceded the diagnosis of an underlying neoplasia. Most frequently involved cancer is small cell lung carcinoma, but there is also a relationship with other tumor etiologies such as thymoma, gynecological tumors or neuroblastoma in children. Paraneoplastic syndromes with ocular involvement can be divided into those that affect the afferent visual pathway, such as cancer-associated retinopathy, melanoma-associated retinopathy, or paraneoplastic optic neuropathy; and the ones that affect the efferent visual pathway, such as bilateral tonic pupils, Myasthenia Gravis, Lambert-Eaton syndrome or paraneoplastic cerebellar degeneration. The presence of autoantibodies is helpful in clinical practice but negativity does not exclude this diagnosis. Although evolution and prognosis is linked to primary disease, in some cases specific treatment, usually immunosuppressive therapy, can help improving patients quality of life (AU)

Paraneoplastic syndromes in ophthalmology.

Paraneoplastic syndromes consist on systemic manifestations associated with certain cancers which are not a direct consequence of tumor invasion or its metastases. It is known that autoimmunity and autoantibody synthesis play an important role in its pathophysiology due to a process of molecular mimicry. Paraneoplastic syndromes in ophthalmology are rare, but it is important to recognize them clinically because in some cases symptoms preceded the diagnosis of an underlying neoplasia. Most frequently involved cancer is small cell lung carcinoma, but there is also a relationship with other tumor etiologies such as thymoma, gynecological tumors or neuroblastoma in children. Paraneoplastic syndromes with ocular involvement can be divided into those that affect the afferent visual pathway, such as cancer-associated retinopathy, melanoma-associated retinopathy, or paraneoplastic optic neuropathy; and the ones that affect the efferent visual pathway, such as bilateral tonic pupils, Myasthenia Gravis, Lambert-Eaton syndrome or paraneoplastic cerebellar degeneration. The presence of autoantibodies is helpful in clinical practice but negativity does not exclude this diagnosis. Although evolution and prognosis is linked to primary disease, in some cases specific treatment, usually immunosuppressive therapy, can help improving patients quality of life.

Visual impairment induced by prosthetic cobaltism.

The case of a 68-year-old patient with visual loss secondary to prosthetic cobaltism is reported. The degeneration of the metallic hip prosthesis can produce a systemic absorption of cobalt with cardiac, neurological, endocrine, auditory, and visual manifestations. The diagnostic suspicion is confirmed by serum cobalt measurements. Treatment with early surgery and chelating agents can lead to improvement of the visual, and the other disorders.

Afectación visual por cobaltismo protésico / Visual impairment induced by prosthetic cobaltism

Se presenta el caso de un paciente de 68 años con pérdida visual secundaria a cobaltismo protésico. La degeneración de la prótesis metálica de cadera produce una absorción sistémica de cobalto con manifestaciones cardíacas, neurológicas, endocrinas, auditivas y visuales. La sospecha diagnóstica es confirmada mediante determinaciones séricas de cobalto, y un tratamiento con cirugía precoz y agentes quelantes puede generar una mejoría visual y del resto de síntomas (AU)

The case of a 68-year-old patient with visual loss secondary to prosthetic cobaltism is reported. The degeneration of the metallic hip prosthesis can produce a systemic absorption of cobalt with cardiac, neurological, endocrine, auditory, and visual manifestations. The diagnostic suspicion is confirmed by serum cobalt measurements. Treatment with early surgery and chelating agents can lead to improvement of the visual, and the other disorders (AU)

¿Qué haría usted ante un paciente con síndrome de Horner? / What would you do in front of a patient with a Horner syndrome?

El síndrome de Horner (SH) se caracteriza por ptosis palpebral, miosis pupilar y anhidrosis. Se debe a una interrupción de la vía oculosimpática. Las etiologías son múltiples incluyendo tumorales, traumáticas, iatrogénicas o vasculares. En ocasiones representa una urgencia médica. Para su diagnóstico se usan los test de colirios, como cocaína, hidroxianfetamina o apraclonidina, y pruebas de neuroimagen para establecer la etiología. Presentamos un caso de un SH asociado a bocio multinodular. Se trata de una paciente de 63 años derivada por ptosis palpebral derecha de 4 meses de evolución. En la exploración se objetivó miosis, por lo que se sospechó un SH. Reinterrogando a la paciente esta refirió antecedente de bocio multinodular benigno. Las exploraciones farmacológicas y de neuroimagen confirmaron el diagnóstico de sospecha de SH secundario a la enfermedad tiroidea

Horner's syndrome (HS) occurs when there is disruption to the oculosympathetic pathway. Its features include eyelid ptosis, miosis and anhidrosis. The aetiology of this syndrome is varied and includes tumours, trauma, vascular disease and iatrogenic. Different pharmacologic tests are used for diagnosis, such as cocaine, hydroxyamphetamine and apraclonidine; while neuroimaging helps elucidating the aetiology. We present a case of a 63-year-old female referred to our service with a 4-month history of right eyelid ptosis. During examination right miosis was noted. The patient reported a history of multinodular goiter. Pharmacologic tests and neuroimaging confirmed the diagnosis of HS secondary to thyroid disease

[What would you do in front of a patient with a Horner syndrome?] / ¿Qué haría usted ante un paciente con síndrome de Horner?

Horner's syndrome (HS) occurs when there is disruption to the oculosympathetic pathway. Its features include eyelid ptosis, miosis and anhidrosis. The aetiology of this syndrome is varied and includes tumours, trauma, vascular disease and iatrogenic. Different pharmacologic tests are used for diagnosis, such as cocaine, hydroxyamphetamine and apraclonidine; while neuroimaging helps elucidating the aetiology. We present a case of a 63-year-old female referred to our service with a 4-month history of right eyelid ptosis. During examination right miosis was noted. The patient reported a history of multinodular goiter. Pharmacologic tests and neuroimaging confirmed the diagnosis of HS secondary to thyroid disease.