Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori disease
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 three main types of NCL:
- Adult (Kufs or Parry disease)
- Juvenile (Batten disease)
- Late infantile (Jansky-Bielschowsky disease)
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.
Only one adult subtype of NCL is inherited as autosomal dominant trait.
Symptoms of NCL include:
- Abnormally increased muscle tone or spasm
- Blindness or vision problems
- Lack of muscle coordination
- Intellectual disability
- Movement disorder
- Loss of speech
- Unsteady walk
Exams and Tests
The disorder may be seen at birth, but it is usually diagnosed much later in childhood.
- Autofluorescence (a light technique)
- EEG (measures electrical activity in the brain)
- Electron microscopy of a skin biopsy
- Electroretinogram (an eye test)
- Genetic testing
- MRI or CT scans of the brain
- Tissue biopsy
There is no cure for NCL disorders. Treatment depends on the type of NCL and extent of symptoms. Your health care provider may prescribe muscle relaxants to control irritability and sleep disturbances. Medicines may also be prescribed to control seizures and anxiety. A person with NCL may need lifelong assistance and care.
The following resources can provide more information on NCL:
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:
- 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 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.
Elitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology of the Newborn. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 29.
Glykys J, Sims KB. The neuronal ceroid lipofuscinosis disorders. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Elsevier; 2017:chap 48.
Grabowski GA, Burrow AT, Leslie ND, Prada CE. Lysosomal storage diseases. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 25.
Kwon JM. Neurodegenerative disorders of childhood: neuronal ceroid lipofuscinoses. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 599.