Neuronal ceroid lipofuscinoses (NCLS)

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Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt

• 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)

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)

Review Date: 11/21/2005
Reviewed By: Christos Ballas, M.D., Attending Psychiatrist, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.