A case of neuromuscular mimicry.
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.
Bos
Maaike M
MM
Department of Neurology, Radboud University, Nijmegen Medical Center, Nijmegen, Netherlands. m.m.bos@neuro.umcn.nl
Overeem
Sebastiaan
S
van Engelen
Baziel G M
BG
Scheffer
Hans
H
van den Elzen
Christa
C
Ter Laak
Henk
H
Lammens
Martin
M
Schelhaas
H Jurgen
HJ
Zwarts
Machiel J
MJ
D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000503:physiopathology; D001706:Biopsy; D001933:Brain Stem / Q000473:pathology* / Q000503:physiopathology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control*; D004660:Encephalitis / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006099:Granuloma / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D017696:Myopathies, Nemaline / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D012507:Sarcoidosis / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology