Chapter

Morphological Diagnostic and Pathological Considerations

G. Anderson, M. Elleder, H.H. Goebel, S. Carpenter, M. Haltia, B.D. Lake and J. Rapola

in The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Second edition

Published on behalf of Oxford University Press

Published in print March 2011 | ISBN: 9780199590018
Published online November 2012 | e-ISBN: 9780191753459 | DOI: http://dx.doi.org/10.1093/med/9780199590018.003.0004

Series: Contemporary Neurology Series

Morphological Diagnostic and Pathological Considerations

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Diagnosis for a patient with NCL can still require morphological diagnosis when no changes are detected by initial enzyme or mutation tests. Once morphological diagnosis has been made, and based on the results, appropriate enzyme, and/or molecular genetic studies can be recommended, along with genetic counselling. These diagnostic tests are available at a number of specialized laboratories (see http://www.ucl.ac.uk/ncl).

The morphological diagnosis of NCL rests upon the ultrastructural demonstration of NCL-specific structures. This is usually (should be exclusively) in extracerebral tissues, of which circulating lymphocytes and skin or rectal biopsy are most suitable. Other tissues which have been accessed in the past, such as conjunctiva or skeletal muscle, and rarely liver or brain, are no longer used, except, perhaps for brain biopsy in adult NCL. The results of light microscopic studies can be available within a short time-scale (hours to days), but are of limited diagnostic value. The necessary definitive electron microscope ultrastructural studies may take longer (days to weeks).

Chapter.  5433 words.  Illustrated.

Subjects: Neurology

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