Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome.

Background: Immunological causes of atypical parkinsonisms linked to neuronal specific antibodies have been recently reported. As these are potentially treatable disorders, it is desirable to identify which clinical features may suggest an autoimmune etiology. Case Report: A 60-year-old-man with progressive supranuclear palsy associated with anti-LGI-1 antibodies presented with rapidly progressive dementia and moaning. Treatment with steroids and immunoglobulin resulted in temporary clinical improvement and disease stabilization. Discussion: Anti-LGI-1 antibodies interfere with normal synaptic activity and maturation in the central nervous system. We suggest that an immune-mediated mechanism might be considered in atypical parkinsonisms with unusual features such as rapidly progressive dementia. Highlights: We present a case of rapidly evolving progressive supranuclear palsy-like parkinsonism associated with anti-LGI-1 antibodies, suggesting that immune-mediated mechanisms might be involved in rapid progression of some atypical parkinsonisms. This case also contributes to the expanding spectrum of moaning-associated disorders.

In Vivo Corneal Confocal Microscopy: Pre- and Post-operative Evaluation in a Case of Corneal Neurotization.

In this report, we analyse the pre- and post-operative corneal changes observed using in vivo confocal corneal microscopy in a patient with neurotrophic keratitis submitted to a corneal reinnervation surgical procedure. We describe favourable trophic changes observed at different levels of the patient's cornea, particularly in the sub-basal nerve plexus; complete absence of these neurological structures was observed before surgery, but appeared largely restored six months thereafter.

Fourth Nerve Paresis and Ipsilateral Horner's Syndrome: An Unusual Association.

Presence of a fourth nerve palsy and ipsilateral Horner's Syndrome (HS) is an exceptional association. A case of a 54 year-old patient with diplopia due to a fourth nerve palsy and acquired HS on the same is presented along with magnetic resonance images (MRI) revealing a mass in the right cavernous sinus. This new combination of ipsilateral signs is analyzed.

Sixth nerve palsy + ipsilateral Horner's Syndrome = Parkinson's Syndrome.

PURPOSE: To present five patients with VIth nerve palsy and ipsilateral Horner's Syndrome (HS), as a result of cavernous sinus alteration. STUDY DESIGN: Consecutive case series. MATERIAL AND METHODS: Five patients presented abducens palsy with horizontal diplopia (3 in primary position and 2 in lateral gaze only) and ipsilateral HS. Apraclonidine 0.5% drops evidenced sympathetic denervation in all patients 40-60 min after instillation. All 5 cases had neuroimages (MRI in 3 cases, Computerized Tomography - CT in one case and Magnetic Resonance Angiography - MRA in one case) demonstrating cavernous sinus lesions; 2 meningiomas, 1 carotid-cavernous aneurism, 1 foreign body (bullet) and 1 squamous cell carcinoma. CONCLUSION: Lesions on the cavernous sinus need to be considered in cases of abducens nerve palsy and ipsilateral Horner's Syndrome.

[Guidelines for diagnosis, monitoring and treatment of Fabry disease]. / Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.(AU)

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.(AU)

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. / [Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.

BACKGROUND: Fabry disease is an X-linked disorder due to a deficiency of alpha-galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence-specific detection of Gb3 in conjunctival biopsies has been reported. The aim of this work was to detect Gb3 accumulation in conjunctival biopsies from Fabry patients by immunofluorescence. METHODS: Conjunctival biopsies taken from Fabry males and females, before and after enzyme replacement therapy, and normal controls were processed for immunofluorescence with a monoclonal antibody specific for Gb3. RESULTS: Positive green immunofluorescence was observed in all biopsies from Fabry patients before enzyme replacement therapy. After 6 months of treatment, immunofluorescence in blood vessels was not observed. CONCLUSIONS: Immunofluorescence detection of Gb3 in conjunctival biopsies may be a reliable method for the diagnosis of Fabry disease in family members, and to evaluate effectiveness of enzyme replacement therapy.

Dysthyroid optic neuropathy (DON).

Dysthyroid Optic Neuropathy (DON) affects a small percentage of patients with Graves disease, but, when it occurs, it can cause significant and permanent loss of vision. DON is treatable if recognized early. Systemic steroids can be effective, but may cause side affects. Orbital injection of steroids may play a role in selected patients. Orbital radiation has a more permanent effect and has gained wide acceptance as a relatively non-invasive method of reversing DON. Surgery to decompress crowded orbits has been used for years and continues to be a viable approach for those patients with optic neuropathy, especially when there is significant proptosis. Optic nerve decompression can also be achieved through a transethmoidal approach.