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Steroids and plasma exchange in Isaacs' syndromewith anti-Caspr2 antibodies

Neuroimmunology and Neuroinflammation 2018年第3期5卷 5-9页

作者： Daniele Orsucci Gianfranco Cafforio Gianluca Moscato Alessandro Napolitano Marco Margelli monica mazzoni Unit of Immunohematology and Transfusional Medicine San Luca HospitalLucca55100Italy

Isaacs' syndrome is a disease characterized by nerve hyperexcitability. The patients are commonly treated with symptomatic therapies and immunomodulatory approaches, but no clinical trials are available to date. Here, we report the case of an anti-Caspr2-positive patient, presenting with continuous muscle twitches and diffuse muscle pain. He experienced a nearly complete clinical response to intravenous high-dose steroids combined with plasma exchange, sustained for at least 1 year. Our experience suggests that methylprednisolone 1000 mg/day × 5 days and consecutive tapering followed by plasma exchange may be efficient and well tolerated in patient with Isaacs' syndrome due to anti-Caspr2 antibodies.

关键词： Contactin-associated protein-2 Isaac neuromuscular hyperexcitability neuromyotonia voltage-gated potassium channel

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Hypodysfibrinogenemia in a young patient withrecurrent strokes

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Neuroimmunology and Neuroinflammation 2018年第3期5卷 1-4页

作者： Daniele Orsucci Stefania Salvetti Marco Margelli Michele Puglioli Marco Vista monica mazzoni Unit of Neurology San Luca HospitalLucca55100Italy Unit of Transfusional Medici-ne and Immunohematology San Luca HospitalLucca55100Italy Unit of Neuroradiology University Hospital of PisaPisa56100Italy

Stroke is a complex disease, but in some instances is the direct result of a monogenic disease. Here we report the case of a 44-year-old Italian man who experienced recurrent transitory ischemic attacks and strokes. He also had right fetal-type posterior cerebral artery. He was diagnosed with congenital hypodysfibrinogenemia due to a mutation leading to a truncated fibrinogen gamma chain. Further studies are needed to better elucidate the links between fibrinogen dysfunction and stroke. Hypodysfibrinogenemia should be included among the monogenic diseases associated with ischemic stroke. Physicians should be aware of this condition, which may be detectable on routine assays.

关键词： Coagulation dysfibrinogenemia fibrinogen genetics ischemic stroke monogenic

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