Friday, February, 10, 2012

Neuronal ceroid lipofuscinoses (NCLS)

Table of Contents

Alternative Names

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


Symptoms
  • Abnormally increased muscle tone or spasm (myoclonus)
  • Blindness or vision problems
  • Dementia
  • Lack of muscle coordination
  • Mental retardation with decreasing mental function
  • Movement disorder (choreoathetosis)
  • Seizures
  • Unsteady gait (ataxia)

Signs and tests

The disorder may be seen at birth, but it is usually diagnosed much later.

Tests include:

  • Autofluorescence (a light technique)
  • EEG
  • Electron microscopy of a skin biopsy
  • Electroretinogram
  • Genetic testing
  • MRI or CT scans of the brain
  • Tissue biopsy

Review Date: 10/14/2009
Reviewed By: Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)