Journal of clinical neuromuscular disease
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Juvenile myasthenia gravis (JMG) is an antibody-mediated autoimmune disorder of the neuromuscular junction, at the postsynaptic end plate. JMG presents with fluctuating skeletal muscle weakness and fatigue before the age of 18 years. Very frequently JMG presents with the involvement of the oculomotor muscles, with or without generalized involvement. ⋯ Thymectomy was well tolerated by this group of children. There was clinical improvement after thymectomy in two thirds of the AchR-Ab-positive generalized myasthenia gravis patients. Thymic pathology was seen in less than one third of the patients who underwent thymectomy, with thymic hyperplasia being common. Further studies are necessary to determine whether thymectomy is indicated for all children with generalized JMG. More information about the immunologic, genetic, and molecular differences between patients may determine the best treatment for individual patients.
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J Clin Neuromuscul Dis · Mar 2013
Case ReportsPegylated interferon induced myasthenia crisis--a case report.
Interferons (IFNs) have antiviral, antimitogenic, and immunostimulatory effects and are often used in the treatment of viral hepatitis and some neoplasms. Combination pegylated IFN-alpha and ribavirin therapy is currently recommended for the treatment of hepatitis C. ⋯ There have also been reports outlining side effects associated with conventional IFN therapy and its immunostimulatory effects, which may cause autoimmune phenomena, including but not limited to Guillain-Barre syndrome, polymyositis, acute and chronic demyelinating polyneuropathy, and myasthenia gravis. Although a number of cases of interferon-induced myasthenia gravis have been reported, we present a case of interferon-induced myasthenia crisis that developed soon after retreatment of hepatitis C with combination interferon, ribavirin, and telaprevir.
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J Clin Neuromuscul Dis · Dec 2012
Case ReportsLower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer.
A 54-year-old woman presented with several weeks of psychiatric symptoms, partial-onset seizures, and painful spasms of the lower extremities. On examination, she exhibited severe stiffness and intermittent extensor spasms of the lower extremities. ⋯ Radiographic screening for malignancy disclosed a metastatic breast cancer. The case is a unique example of amphiphysin autoimmunity, illustrating the possibility of paraneoplastic stiff-person syndrome and limbic encephalitis coexisting in a patient with a "classical" presentation of stiff-person syndrome confined to the lower extremities.
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J Clin Neuromuscul Dis · Jun 2012
Review Case ReportsParaneoplastic Isaacs' syndrome: a case series and review of the literature.
Isaacs' syndrome is a rare disease resulting from hyperexcitability of peripheral nerves causing continuous muscle fiber activity characterized by muscle twitching and stiffness at rest and delayed muscle relaxation after voluntary contraction. Our objective was to discuss the relationship of Isaacs' syndrome to paraneoplastic syndromes as reported in the available literature and in 3 patients evaluated at our academic medical center. ⋯ Our case series highlights the association of Isaacs' syndrome with a variety of neoplasms both malignant and benign. Our report also underscores the fact that Isaacs' syndrome may be diagnosed several years before a neoplasm is discovered. In our cases, Isaacs' syndrome overlapped with other neuromuscular disorders, that is, myasthenia gravis in a patient with thymoma and chronic inflammatory demyelinating polyneuropathy in a patient with lymphoplasmacytic lymphoma with paraproteinemia. To our knowledge, this is the first report of an association between Isaacs' syndrome with lymphoplasmacytic lymphoma and a spinal cord hemangioblastoma.