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08 May 2023: Articles

Anti-PL12 Anti-Synthetase Syndrome and Amyotrophic Lateral Sclerosis: A Case Report of a Rare Comorbidity

Rare coexistence of disease or pathology

Ejaz A. Shamim A* , Melvin W. Kong B , Ivan Y. Lim B , Richard J. McCarthy B , Sharday N. Grant B , Harpreet K. Nagi B

DOI: 10.12659/AJCR.939035

Am J Case Rep 2023; 24:e939035

Table 2. Neurophysiological testing and muscle biopsy results.

Test performedDate performedConclusions
Electromyography (EMG)02/01/2017This is a limited study due to patient being unable to tolerate nerve conductions studies due to discomfort. However, the findings on the EMG are not suggestive of a myopathic disorder, but rather suggestive of a chronic neurogenic disorder with acute on chronic ongoing denervation of several distal and proximal muscles that may be seen in an acute on chronic polyradiculopathy affecting several lumbosacral and cervical nerve roots with the most affected roots being left C6 and left S1. The only muscle that showed some evidence of myopathic changes was left gastrocnemius, which may be considered as a muscle to biopsy, but not on the right side, should there be a high suspicion of myopathy.
04/10/2017Left quadriceps needle EMG more consistent with denervation than myositis, but this can sometimes be seen myositis.
11/20/2017This study suggests the presence of diffuse lower motor neuron dysfunction including the diaphragm. Motor neuron disease and multilevel radiculopathy are among the differentials in this setting. In addition, there is evidence of sensory and motor neuropathy with mixed features of axonal loss and demyelination as can be typically seen with metabolic diseases such as diabetes. Additional right median neuropathy at the wrist and right ulnar neuropathy at the elbow are also noted.
Right thigh muscle biopsy05/01/2017Scattered atrophic and scattered necrotic fibers; Focal chronic inflammation. Addendum: Skeletal muscle, thigh, biopsy: mixed neurogenic and myopathic features. The predominant histopathology is that of neurogenic atrophy. In addition, there is a mild degree of myonecrosis and regeneration along with complement C5b-9 deposition. These myopathic features may correlate with the clinical diagnosis of myositis despite the absence of lymphocytic infiltrates or MCH class I expression. If the patient was treated with corticosteroids prior to the biopsy, the cellular inflammation and MHC class I expression may have been suppressed. CD20, CD3, CD4, CD8 and CD5 immunostaining did not show inflammatory cells. TDP-43 expression was negative.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923