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Neuronal ceroid lipofuscinoses (NCLS)

Alternative Names: Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt Symptoms: Blindness or visual disturbance Ataxia, unsteady gait Mental retardation with decreasing mental function Dementia (deterioration of ability to think) Seizures Abnormal increased muscle tone or spasm (myoclonus) Movement disorder (choreoathetosis) Signs and tests: Tests include: Tissue biopsy to demonstrate lipofuscin (aging pigment) storage Autofluorescence, a light technique to see if white blood cells contain vacuoles or lipofuscin Electron microscopy of a skin biopsy to show abnormal inclusions in cells MRI or CT scans of the brain to show atrophy (shrinkage or small brain) EEG, which may show abnormal excitability of the brain and seizure Evoked visual potentials that be reduced or even absent Electroretinogram that may reveal severe impairment of vision Genetic testing (available for multiple subtypes of this group of diseases)

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