Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt
Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).
These are the 3 main types of NCL:
NCL involves the buildup of an abnormal material called lipofuscin in the brain. NCL is thought to be caused by problems with the brain's ability to remove and recycle proteins.
Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition.
Symptoms of NCL include:
The disorder may be seen at birth, but it is usually diagnosed much later in childhood.
Treatment depends on the type of NCL and extent of symptoms. A person with NCL may need lifelong assistance and care.
For information and support, see the Batten Disease Support and Research Association at
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.
These complications can occur:
The person may become totally dependent on others for help with daily activities.
Call your provider if your child shows symptoms of blindness or intellectual disability.
Genetic counseling is recommended if your family has a known history of NCL. Prenatal tests, or a test called preimplantation genetic diagnosis (PGD), may be available, depending on the specific type of disease. In PGD, an embryo is tested for abnormalities before it is implanted in the woman's womb.
Kwon JM. Neuronal ceroid lipofuscinoses. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 599.
Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA.
Last reviewed on: 10/27/2015
Reviewed by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.