Abstract |
Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert-Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement on 3 Hz stimulation, and slightly elevated creatine kinase. Muscle biopsy revealed tubular aggregates in type II fibers. Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal. Two years later, the patient presented with progressive weakness and autonomic dysfunction. 17% decrement on 3 Hz stimulation and 100% increment after brief exercise were revealed. Autoantibodies to voltage-gated calcium-channels confirmed the diagnosis of Lambert-Eaton myasthenic syndrome. Steroids, azathioprine, and 3,4-diaminopyridine significantly improved symptoms. No tumor was found during follow-up. This is the first report about tubular aggregates associated with an acquired myasthenic syndrome. Our findings are important because of the therapeutic implications.
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Authors | Isabell Cordts, Fabian Funk, Jörg B Schulz, Joachim Weis, Kristl G Claeys |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 26
Issue 12
Pg. 880-884
(Dec 2016)
ISSN: 1873-2364 [Electronic] England |
PMID | 27816328
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2016 Elsevier B.V. All rights reserved. |
Topics |
- Adult
- Diagnosis, Differential
- Exercise
(physiology)
- Humans
- Lambert-Eaton Myasthenic Syndrome
(diagnosis, drug therapy, genetics, pathology)
- Male
- Muscle, Skeletal
(pathology, physiopathology)
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