Absence of characteristic features in two patients with inclusion body myositis.
According to recently published criteria a diagnosis of definite sporadic inclusion body myositis is made if the typical histopathological abnormalities (rimmed vacuoles and abnormal accumulations of proteins, in addition to mononuclear cell infiltrates) are present. The two women described here presented with myositis which was unresponsive to treatment. Patient 1 had features of non-progressive sporadic inclusion body myositis clinically, whereas patient 2 had a very slowly progressive limb girdle syndrome. The cryostat sections of the first biopsies did not show rimmed vacuoles, even in retrospect. Only a repeated biopsy, 12 years after presentation in one patient and 18 years after presentation in the other, disclosed the typical features of sporadic inclusion body myositis. The initial absence of abnormal fibres probably represents a real absence or scarcity rather then a sampling error due to a multifocal nature of the histological abnormalities. It is of importance for the clinician to realise that some patients with myositis unresponsive to treatment, even if both clinical and histological features do not suggest sporadic inclusion body myositis, may prove to have the disease on repeated histopathological examination.
van der Meulen
M F
MF
Department of Neurology, University Hospital Utrecht, The Netherlands. mmeulen@neuro.azu.nl
Hoogendijk
J E
JE
Jansen
G H
GH
Veldman
H
H
Wokke
J H
JH
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D008875:Middle Aged; D018979:Myositis, Inclusion Body / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D015983:Selection Bias; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure