Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.

GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on the short and long term were not available. We describe the response to treatment with pyridostigmine in three siblings with GMPPB-related CMS using functional motor scales performed regularly over a period of 40 months. The beneficial effect of the treatment was outstanding within the first hours, with all the scales showing a dramatic increase in only two days. This remarkable improvement remained steady during 12 months but a moderate decrease was subsequently detected in two of the three patients. Despite this decline in the scores of the scales at the end of follow up, the functional motor status of the patients was still significantly better than it was before starting treatment. The introduction of pyridostigmine at an early age of the disease in one of the patients, before the onset of scoliosis, may have had a protective effect on it.

Lesión esplénica reversible con encefalopatía/encefalitis leve (MERS) / Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)

Resumen El síndrome de lesión esplénica reversible (RESLES) corresponde a una lesión transitoria presente en un espectro de entidades con características clínicas y radiológicas definidas con buen pronóstico. La lesión esplénica reversible con encefalopatía/encefalitis leve (MERS) hace parte de este grupo de enfermedades. Presentamos el caso de una niña con un cuadro clínico que inicia con un pródromo febril y evoluciona hacia alteración de estado de conciencia. Se realiza resonancia magnética (RMN) cerebral simple que muestra lesión en el esplenio del cuerpo calloso hipointensa en T1 e hiperintensa en T2 y FLAIR, con restricción en la difusión y mapa de ADC. La sintomatología y los hallazgos radiológicos se resolvieron a partir de las 4 semanas. El cuadro clínico y el curso imagenológico de este caso corresponde a un cuadro típico de MERS. Esta entidad tiene baja incidencia y es poco conocida en nuestro país, razones por las cuales el diagnóstico es difícil en la mayoría de los casos.

Summary The Reversible Splenial Lesions Syndrome (RESLES) has been described as a transient lesion in a group of diseases with special clinical and radiological features and with a good prognosis. An encephalopathy with a reversible splenium of the corpus callosum lesion (MERS) is part of these diseases. We present a case report of an 11 years old female with a febrile prodromal phase that evolved into an altered state of consciousness. Simple brain MRI findings comprise a lesion in the splenium of the corpus callosum, hypointense on T1, hyperintense on T2 and FLAIR, with restricted diffusion on ADC. The clinical symptoms and radiological findings resolved after 4 weeks. The clinical course and images of this case are typical presentation of MERS. This entity has a low incidence and not very renowned in our country, for this reason, the diagnosis is difficult in most cases.