Abstract
Recognizing an ALS-mimic can be challenging. Here, we describe a patient with a slowly progressive dysarthria and dysphagia, with fasciculations of the tongue and general hyperreflexia, fulfilling the diagnostic criteria of 'clinical probable ALS'. Because of a non-conclusive EMG, a muscle biopsy was performed that surprisingly showed widespread nemaline rods. The clinical features and the histological findings were compatible with a sporadic late onset nemaline myopathy. Three years after initial presentation the patient died and post-mortem examination not only showed nemaline bodies in every muscle examined, but also revealed an unsuspected final diagnosis: sarcoid brainstem encephalitis. Nemaline rods can be found in various disorders, and neurosarcoidosis should be added to this list.
MeSH terms
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Amyotrophic Lateral Sclerosis / diagnosis
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Amyotrophic Lateral Sclerosis / physiopathology
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Biopsy
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Brain Stem / pathology*
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Brain Stem / physiopathology
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Diagnosis, Differential
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Diagnostic Errors / prevention & control*
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Encephalitis / complications*
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Encephalitis / diagnosis
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Encephalitis / physiopathology
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Fatal Outcome
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Female
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Granuloma / pathology
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Humans
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Inclusion Bodies / metabolism
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Inclusion Bodies / pathology
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Middle Aged
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / physiopathology
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Myopathies, Nemaline / complications*
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Myopathies, Nemaline / diagnosis
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Myopathies, Nemaline / physiopathology
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Neurons / metabolism
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Neurons / pathology
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Sarcoidosis / complications*
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Sarcoidosis / diagnosis
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Sarcoidosis / physiopathology