Publications by authors named "Sonia Millan"

Guillain-Barré syndrome (GBS) is the most common acute peripheral polyneuropathy in the world. The estimated incidence in Colombia is 1.2-1.

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The relevance of polyautoimmunity, defined as the presence of 2or more autoimmune diseases in the same individual, is one of the issues not yet elucidated in medical practice. The coexistence of myasthenia gravis (MG) and systemic lupus erythematosus (SLE) is a clinical challenge due to the possible differential diagnoses of muscle involvement in patients with SLE. We present the case of a patient who came to the emergency room of Hospital Universitario San Ignacio in Bogotá, Colombia, with a previous diagnosis of SLE, who developed acute weakness in the context of a systemic infection, with a clinical and electrophysiological diagnosis of MG.

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Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific pharmacological management that decreases clinical progression. We describe the clinical and biochemical characteristics of a Colombian patient with a previously unreported homozygous mutation in the PNPLA2 gene with a difficult to manage disease, who was diagnosed late by advances in molecular techniques.

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Introduction: Approximately 85% of patients with multiple sclerosis have an initial demyelinating event. Treatment with interferon beta delays the progression of multiple sclerosis for nearly two years in patients with a clinically isolated syndrome. In Colombia, interferon is very expensive when compared to other countries.

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