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Neuronal ceroid lipofuscinoses (NCLS)

Definition

Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.

There are three main types of NCLS:

  • Adult (Kufs' or Parry's disease)
  • Juvenile (Batten disease)
  • Late infantile (Jansky-Bielschowsky)

Alternative Names

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

Causes

NCLS involves the buildup of an abnormal material called lipofuscin in the brain. NCLS is thought to be caused by problems with the brain's ability to remove and recycle proteins.

Lipofuscinoses are inherited as autosomal recessive traits.

Symptoms

  • Abnormally increased muscle tone or spasm (myoclonus)
  • Blindness or vision problems
  • Dementia
  • Lack of muscle coordination
  • Intellectual disability
  • Movement disorder (choreoathetosis)
  • Seizures
  • Unsteady walk (ataxia)

Exams 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

Treatment

Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.

Support Groups

For information and support, see www.bdsra.org.

Outlook (Prognosis)

The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease starts in the first year of life, death by age 10 is likely.

If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy.

Possible Complications

  • Vision impairment or blindness (with the early-onset forms of the disease)
  • Mental impairment, ranging from severe developmental delays at birth to dementia later in life
  • Rigid muscles (due to severe problems with the nerves that control muscle tone)

The person may become totally dependent on others for help with daily activities.

When to Contact a Medical Professional

Call your health care provider if your child shows symptoms of blindness or intellectual disability.

Prevention

Genetic counseling is recommended if your family has a known history of NCLS. Prenatal or preimplantation genetic testing may be available depending on the specific type of disease.

References

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 592.

Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. In: Pagon RA, Adam MP, Bird TD, eds. GeneReviews. [serial online] Updated August 1, 2013. Accessed October 29, 2013.


Review Date: 10/29/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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