Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto / Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults

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[Clinical, electrophysiological and immunological evaluation of the response to treatment with intravenous immunoglobulins in several immune-mediated neuropathies]. / Valoración clínica, electrofisiológica e inmunológica de la respuesta al tratamiento con inmunoglobulinas intravenosas en distinta neuropatías inmunomediadas.

INTRODUCTION AND AIMS: Chronic immune-mediated neuropathies are characterised by their being predominantly demyelinating, by being associated to specific antibodies and by their response to immunotherapy. We evaluated the clinical, electrophysiological and immunological responses following treatment with intravenous immunoglobulins (IVIg) in different clinical forms. CASE REPORTS: We report on three patients with: 1. Multifocal motor neuropathy, 2. Multifocal sensory-motor neuropathy, and 3. Hypertrophic brachial plexopathy, who were evaluated before and 14 days after treatment with IVIg by means of clinical scales (MRC, Rankin), electrophysiological studies (ENG-EMG), and antibody (antiganglioside) determination. The three patients showed clinical improvement (> 20% MRC, > 1 Rankin) between the 4th and 7th day after the infusion, and this was maintained for 4-16 weeks. The ENG in cases 1 and 2 revealed conduction block (CB) in some nerves, lowered amplitude in others, and signs of demyelination. Following treatment, the CB disappeared in some nerves, while in others there was an improvement in the distal amplitude (distal block), but with no correlative improvement in the proximal amplitude, revealing new CBs that had previously gone undetected. The sum of post-treatment amplitudes improved in cases 1 and 2. In case 3, we were unable to demonstrate the existence of CBs, although we believe that they did exist proximally, and we found indirect signs of CB in EMG. The three cases had increased antiganglioside IgM antibodies levels, which did not undergo any significant variations. CONCLUSIONS: A 'consistent' clinical improvement was observed following treatment with IVIg. There was no correlation between the electrophysiological response (although apparent) and the degree of clinical response. CBs exist at different levels in the same nerve, which can be revealed after treatment. Following therapy, antiganglioside antibody levels remain high.

Valoración clínica, electrofisiológica e inmunológica de la respuesta al tratamiento con inmunoglobulinas intravenosas en distintas neuropatías inmunomediadas / Clinical, electrophysiological and immunological evaluation of the response to treatment with intravenous immunoglobulins in several immune-mediated neuropathies

Introducción y objetivos. Las neuropatías inmunomediadas crónicas se caracterizan por ser predominantemente desmielinizantes, por asociar anticuerpos específicos y por su respuesta a la inmunoterapia. Evaluamos la respuesta clínica, electrofisiológica e inmunológica tras el tratamiento con inmunoglobulinas intravenosas (IgIV) en distintas formas clínicas. Casos clínicos. Presentamos tres pacientes con: 1. neuropatía motora multifocal; 2. neuropatía multifocal sensitivomotora, y 3. plexopatía braquial hipertrófica, valorados antes y 14 días después del tratamiento con IgIV, mediante escalas clínicas (MRC, Rankin), estudio electrofisiológico (ENG-EMG), y determinación de anticuerpos (antigangliósido). Los tres pacientes mejoraron clínicamente (> 20% en MRC, > 1 en Rankin), entre el 4.º y el 7.º día posterior a la infusión, y la mejoría se mantuvo 4-16 semanas. El ENG en los casos 1 y 2 demostró bloqueo de la conducción (BC) en algunos nervios, disminución de la amplitud en otros, y signos de desmielinización. Tras el tratamiento, en unos nervios desaparecen los BC y en otros mejora la amplitud distal (bloqueo distal), pero sin una mejoría correlativa de la proximal, desenmascarando nuevos BC no evidenciados previamente. La suma de amplitudes postratamiento mejoró en los casos 1 y 2. En el caso 3 no pudimos demostrar BC, aunque pensamos que existían proximalmente, y encontramos signos indirectos de BC en el EMG. Los tres casos tenían elevación de anticuerpos IgM antigangliósido, que no experimentaron variaciones relevantes. Conclusiones. Encontramos una mejoría clínica ‘consistente’ tras el tratamiento con IgIV. La respuesta electrofisiológica, aunque evidente, no se correlaciona con el grado de respuesta clínica. Existen BC en distintos lugares de un mismo nervio que pueden desenmascararse tras el tratamiento. Los anticuerpos antigangliósido persisten elevados con posterioridad

Introduction and aims. Chronic immune-mediated neuropathies are characterised by their being predominantly demyelinating, by being associated to specific antibodies and by their response to immunotherapy. We evaluated the clinical, electrophysiological and immunological responses following treatment with intravenous immunoglobulins (IVIg) in different clinical forms. Case reports. We report on three patients with: 1. Multifocal motor neuropathy, 2. Multifocal sensory-motor neuropathy, and 3. Hypertrophic brachial plexopathy, who were evaluated before and 14 days after treatment with IVIg by means of clinical scales (MRC, Rankin), electrophysiological studies (ENG-EMG), and antibody (antiganglioside) determination. The three patients showed clinical improvement (> 20% MRC, > 1 Rankin) between the 4th and 7th day after the infusion, and this was maintained for 4-16 weeks. The ENG in cases 1 and 2 revealed conduction block (CB) in some nerves, lowered amplitude in others, and signs of demyelination. Following treatment, the CB disappeared in some nerves, while in others there was an improvement in the distal amplitude (distal block), but with no correlative improvement in the proximal amplitude, revealing new CBs that had previously gone undetected. The sum of post-treatment amplitudes improved in cases 1 and 2. In case 3, we were unable to demonstrate the existence of CBs, although we believe that they did exist proximally, and we found indirect signs of CB in EMG. The three cases had increased antiganglioside IgM antibodies levels, which did not undergo any significant variations. Conclusions. A ‘consistent’ clinical improvement was observed following treatment with IVIg. There was no correlation between the electrophysiological response (although apparent) and the degree of clinical response. CBs exist at different levels in the same nerve, which can be revealed after treatment. Following therapy, anti-ganglioside antibody levels remain high