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. H...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.展开更多
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. H...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.展开更多
文摘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.
文摘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.
