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Abstract Details

Muscle Specific Kinase Antibody Positive Myasthenia Gravis With Thymoma: A Rare Case Report
Neuromuscular and Clinical Neurophysiology (EMG)
P2 - Poster Session 2 (11:45 AM-12:45 PM)
9-004
N/A
Approximately 10–20% of patients with myasthenia gravis (MG) have thymoma-associated MG, characterized by the presence of a thymic epithelial tumor or thymoma.  Anti–acetylcholine receptor (AChR) antibodies are detected in the vast majority of these patients. In contrast, thymic abnormalities are uncommon in patients with muscle-specific kinase (MuSK) antibody–positive MG. 

N/A

We report the case of an 80-year-old male patient with a history of thymoma incidentally identified on follow-up thoracic imaging after a respiratory infection. Complete thymectomy revealed a WHO type B2 thymoma, Masaoka stage IIa.  One month postoperatively, the patient developed binocular diplopia. After six months, he reported dysphagia, and at nine months he was referred to neurology for dysarthria and fluctuating nasal speech. Neurological examination revealed bilateral ptosis, diplopia in primary gaze, and nasal voice exacerbated by fatigability maneuvers, with no additional relevant findings. Laboratory studies showed elevated TSH levels; brain and orbital MRI revealed no significant abnormalities. AChR antibodies were negative (<0.02 nMol/L) on two separate radioimmunoassays. Single-fiber electromyography of the orbicularis oculi muscle showed increased jitter (97.3 µs) and blocking, consistent with impaired neuromuscular transmission. A trial of cholinesterase inhibitors was poorly tolerated due to gastrointestinal adverse effects and was discontinued. Given the high clinical suspicion of myasthenic syndrome, oral methylprednisolone was initiated and titrated to 20 mg/day, resulting in marked improvement in approximately six weeks. Subsequently, anti–MuSK antibodies were tested and found to be positive at 1.53 nMol/L (positive >0.05 nMol/L) using radioimmunoassay. 


To the best of the authors’ knowledge, only five cases of thymoma-associated myasthenia gravis seronegative for AChR antibodies but positive for anti-MuSK antibodies have been reported in the literature to date.  Further studies are warranted to clarify the underlying mechanisms of this association.



Authors/Disclosures
Rosario M. Elena, MD (Hospital Italiano de Buenos Aires)
PRESENTER
Dr. Elena has nothing to disclose.
Agustina Moroni (Italian Hospital of Buenos Aires) Agustina Moroni has nothing to disclose.
Marcelo Rugiero Rodriguez Marcelo Rugiero Rodriguez has nothing to disclose.
Mariela Bettini, MD (Hospital Italiano DE. BS. AS.) Dr. Bettini has nothing to disclose.
Juan I. Kenny, MD (Hospital Italiano de Buenos Aires) Dr. Kenny has nothing to disclose.