Neuronal Ceroid Lipofuscinoses (NCLS)
Alternate Names : Batten Disease, Jansky-Bielschowsky, Kufs' Disease, Lipofuscinoses, Spielmeyer-Vogt
Neuronal Ceroid Lipofuscinoses (NCLS): Diagnosis & Tests
Tests include:
- Tissue biopsy to demonstrate lipofuscin (aging pigment) storage
- White blood cells may contain vacuoles or lipofuscin (that is detected by autofluorescence)
- Electron microscopy of a skin biopsy may show abnormal inclusions in cells
- MRI or CT scans of the brain may show atrophy (shrinkage or small brain)
- EEG may show abnormal excitability of the brain and seizure
- Evoked visual potentials may be reduced or even absent
- Electroretinogram can reveal severe impairment of vision
- Genetic testing is available for multiple subtypes of this group of diseases
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