Internal medicine
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Bing-Neel syndrome (BNS) is a rare central nervous system manifestation of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM). We herein report a 62-year-old man with LPL/WM after multiple chemotherapies. He had weakness of lower extremities and elevated serum IgM levels. ⋯ He was diagnosed with BNS and started on treatment with tirabrutinib 480 mg daily. Within three months, he showed clinical and radiologic improvement. Tirabrutinib may have utility as an effective treatment for BNS.
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Review Case Reports
Swallowing-induced Paroxysmal Atrial Tachycardia Causes Weight Loss and Fainting During Mealtime: A Case Report and Literature Review.
Swallow or deglutition syncope is an unusual disorder. We herein report an 80-year-old man with paroxysmal atrial tachycardia induced by swallowing, causing syncope. Initially, we suspected a digestive disorder and found no significant findings. ⋯ The patient was treated with antiarrhythmic drugs and catheter ablation. The mechanism underlying swallowing-induced tachycardia presumably involves mechanical stimulation of the esophagus and autonomic nervous system effects. However, few cases have been reported, and the exact mechanism remains unclear.
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Review Case Reports
A Case of a Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic anemia was noted. ⋯ S62N, was identified in the PGK1 gene. A literature review revealed only one case with a mixed hemolytic and myopathic phenotype like ours. This mild phenotype indicates the complex pathophysiology of PGK deficiency and suggests the benefits of dietary control and exercise.
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A 59-year-old man with progressive cognitive decline and mood disturbances was admitted to the hospital. Brain magnetic resonance imaging revealed marked white matter hyperintensity (WMH) and widespread lobar cerebral microbleeds. ⋯ We diagnosed him with cerebral amyloid angiopathy (CAA) based on the modified Boston Criteria with the rare apolipoprotein E (ApoE) ε2/ε4 genotype. The mechanism underlying reversible leukoencephalopathy in CAA may be related to the loss of autoregulation of brain circulation: cerebrovascular amyloid β deposits damaged the blood-brain barrier of the capillaries, which led to vasogenic edema induced by blood pressure surges.