In a 49-yr-old woman who presented with a cervical mass, a fine-needle specimen without aspiration was suggestive of paraganglioma; there were spindle-shaped cells with pseudoacinar structures and prominent intranuclear vacuoles. Subsequent examination of a mass removed from the vagus nerve clearly identified a schwannoma. The differential diagnosis is discussed, particularly in relation to the presence of intranuclear vacuoles, and it is concluded that this cytological characteristic should not in itself define the diagnosis.
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CGG Repeat Expansion in Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum.
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View Article and Find Full Text PDFArticle Synopsis
- Oculopharyngodistal myopathy (OPDM) is a genetic muscle disease that causes drooping eyelids, trouble swallowing, and weakness in the arms and legs.
- Recent research found repeating sequences in a gene called ABCD3 in people with OPDM from European backgrounds, while similar repeats were only discovered in certain Asian groups before.
- These long repeats in the ABCD3 gene might play a role in the muscle problems seen in OPDM, suggesting a link between these repeats and the weakness that affects patients.
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