We report a case of a 72-year-old woman who initially presented with symptoms of bulbar myasthenia and was positive for anti-acetylcholine receptor antibodies. She subsequently developed painful muscle spasms, myoclonus, and stiffness. Thymoma was detected, and both anti-glycine receptor and anti-glutamic acid decarboxylase antibodies were found. She was diagnosed with thymoma-associated progressive encephalomyelitis with rigidity and myoclonus (PERM). She experienced marked improvement after thymectomy followed by plasma exchange and intravenous immunoglobulin and prednisolone. This case suggests that thymectomy followed by sufficient immunosuppression may be useful in the treatment of thymoma-associated PERM. Myasthenia gravis may develop in thymoma-associated PERM patients.
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http://dx.doi.org/10.2169/internalmedicine.56.7979 | DOI Listing |
Front Immunol
January 2025
Department of Ophthalmology, National University Hospital, National University Health System, Singapore, Singapore.
Autoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hematopoietic stem cell transplant (aHSCT) for thymoma-associated AIR after experiencing progressive disease despite receiving periocular and systemic steroids, mycophenolate mofetil, baricitinib, tacrolimus, bortezomib, rituximab, plasmapheresis, and intravenous immunoglobulin. The aHSCT had two stages: (i) peripheral blood stem cell harvest following mobilization with cyclophosphamide and granulocyte colony-stimulating factor, and (ii) conditioning regimen with plasmapheresis, rituximab, cyclophosphamide, and anti-thymocyte globulin high-dose therapy, followed by autologous hematopoietic cell infusion of 5.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
September 2024
Department of General Thoracic Surgery, Juntendo University School of Medicine, Tokyo, Japan.
Stiff person syndrome (SPS) is a neurologic disorder, some cases of which are associated with malignant disease. Here, we report a case of thymoma-associated SPS that was successfully treated with surgical resection. A 57-year-old man with progressive muscle stiffness and weakness was diagnosed with thymoma-related SPS.
View Article and Find Full Text PDFJ Thorac Dis
October 2024
Department of Cardiothoracic Surgery, Tianjin Medical University General Hospital, Tianjin, China.
Background: Research shows that thymoma-associated myasthenia gravis (MG) patients exhibit immunological imbalances, including anomalies in immune indicators. The link between these abnormalities and thymectomy outcomes is not well-understood. This study aims to assess the impact of immunological markers like T helper (Th)17 cells, regulatory T (Treg) cells, CD4 T, CD8 T cells, immunoglobulin (Ig)G, IgA, IgM, IgE, C-reactive protein (CRP), complement C3, and complement C4 on MG prognosis post-thymectomy.
View Article and Find Full Text PDFCureus
August 2024
Department of Obstetrics and Gynecology, South Central Regional Medical Center, Laurel, USA.
Thymomas are rare tumors originating from thymic tissue, often associated with various paraneoplastic syndromes that can pose significant clinical management challenges. Myasthenia gravis, one of the most common paraneoplastic syndromes linked to thymomas, is characterized by autoantibodies targeting the neuromuscular junction, leading to muscle weakness exacerbated by repetitive use. Good's syndrome, an adult-onset immunodeficiency associated with thymomas, results in hypogammaglobulinemia and susceptibility to opportunistic infections, which can be life-threatening.
View Article and Find Full Text PDFHeliyon
July 2024
Third Hospital of Shanxi Medical University, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongiji Shanxi Hospital, Taiyuan, 030032, China.
Patients with thymoma (THYM)-associated myasthenia gravis (MG) typically have a poor prognosis and recurring illness. This study aimed to discover important biomarkers associated with immune cell infiltration and THYM-associated MG (THYM-MG) development. Gene expression microarray data were downloaded from The Cancer Genome Atlas website (TCGA) and Gene Expression Omnibus (GEO).
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