Stiff-person syndrome associated with invasive thymoma: a case report.
We report a case of a 40-year-old female with continuous muscle stiffness and painful muscle spasms. The symptoms worsened over a two-week period after onset. Electrophysiological examinations revealed continuous muscle discharge, which was markedly reduced by intravenous administration of diazepam. High levels of anti-glutamic acid decarboxylase (GAD) antibodies were detected in both serum and cerebrospinal fluid, suggesting that the patient suffered from stiff-person syndrome. Steroid pulse therapy and immunoadsorption therapy alleviated the clinical symptoms and decreased the anti-GAD antibody titer. A chest CT revealed the presence of an invasive thymoma. Neither anti-acetylcholine receptor (AChR) antibodies nor symptoms of myasthenia gravis (MG) were observed. The patient underwent a thymectomy and postoperative radiotherapy. These treatments further alleviated the clinical symptoms. The present case is the first that associates stiff-person syndrome with invasive thymoma, and not accompanied by MG. The autoimmune mechanism, in this case, may be triggered by the invasive thymoma.
Hagiwara
H
H
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Hongo 7-3-1, Tokyo, 113-8655, Bunkyo, Japan.
Enomoto-Nakatani
S
S
Sakai
K
K
Ugawa
Y
Y
Kusunoki
S
S
Kanazawa
I
I
D000328:Adult; D000906:Antibodies / Q000097:blood / Q000134:cerebrospinal fluid; D005260:Female; D005968:Glutamate Decarboxylase / Q000172:deficiency / Q000276:immunology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009207:Myoclonus / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D009433:Neural Inhibition / Q000276:immunology; D013035:Spasm / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D016750:Stiff-Person Syndrome / Q000276:immunology* / Q000378:metabolism / Q000503:physiopathology; D013945:Thymoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D013953:Thymus Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
D000906:Antibodies; D005968:Glutamate Decarboxylase