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Neurology
Neuronal Ceroid Lipofuscinosis (NCL or Batten Disease)
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What is neuronal ceroid lipofuscinosis (NCL)?
NCLs are a group of genetic conditions that result in progressive neurological symptoms that include ataxia (lack of coordination), seizures, loss of cognitive skills and vision. NCL is also known as Batten disease.
What causes NCL (Batten disease)?
NCL is classified as a lysosomal storage disorder. The lysosomes are small compartments within cells that modify and remove proteins and fats. NCL is characterized by abnormal accumulation of proteins and fats in the lysosomes.
For reasons that have yet to be understood, the lysosomal collections are particularly damaging to the cells of the brain and the retina (a layer at the back of the eye). There are 14 different genes that affect the function of the lysosome. Mutations of any of these genes may cause NCL.
Who gets NCL?
A person can develop NCL any time from infancy to adulthood, though early childhood is the most common time for the first symptoms to occur.
NCL mutations are typically inherited in a recessive fashion, meaning that each parent is a carrier for a mutation in the same NCL gene. Carriers do not have any symptoms of NCL. With a recessively inherited condition, there is a 25% chance of a child inheriting a mutation from both parents and hence having NCL. Most patients do not have any other affected family members at the time of diagnosis.
What are the signs and symptoms of neuronal ceroid lipofuscinosis (NCL)?
- Infantile NCL refers to patients with onset of symptoms prior to age 2. Children may have developmental delays, seizures, slowing of head growth and visual impairment. Over time, neurological symptoms progress and skills are lost.
- Late infantile NCL refers to patients with onset of symptoms between 2 to 4 years old. The sequence of symptoms depends on the specific gene that is affected, but it typically includes the same symptoms that occur in infantile NCL. Later onset disease typically means that symptoms will progress more slowly.
- Juvenile NCL refers to patients with onset of symptoms between age 4 and 8 years. In this age group, loss of vision is often the first symptom that is seen. Seizures and loss of skills typically follow after loss of vision.
- Adult NCL may occur at any time after childhood. In some cases patients may only have visual loss or only epilepsy depending on the gene that is affected.
What tests are used to diagnose neuronal ceroid lipofuscinosis (NCL)?
- Electroencephalography (EEG): A neurologist can diagnose epilepsy by looking at the electrical patterns of the brain by placing electrodes on the scalp.
- Magnetic resonance imaging (MRI): Images may show characteristic changes in the brain.
- Electroretinography (ERG): An ophthalmologist may evaluate the electrical signals of the retina at the back of the eye in response to light.
- Skin biopsy: A doctor can obtain a small piece of skin that can be reviewed under the microscope for characteristic changes associated with NCL.
- Genetic testing: A blood test can be done to look for genetic changes in any or all of the genes that are associated with NCL.
Why choose Children's Hospital Colorado for diagnostic NCL (Batten disease) testing?
Children's Colorado has multidisciplinary clinics that specialize in diagnosis and management of rare diseases. We're the only hospital in the region with all of the pediatric specialists under one roof that are needed to accurately diagnose patients with NCL.
What should I expect from NCL diagnostic tests?
- EEG involves placing electrodes on the scalp using gel. It's a noninvasive test that may be done in an hour or may require staying in the hospital overnight if a longer reading is needed.
- MRI is often performed using sedation for younger children because it requires lying still in the scanner for 30 to 60 minutes. Results of the test are typically available the next day.
- ERG is performed in the operating room by an ophthalmologist and often requires anesthesia. It can be done as an outpatient procedure that does not require hospital admission, and performed at the same time as MRI or other procedures that require anesthesia.
- Skin biopsy can be performed in the clinic using local anesthesia (numbing a specific part of the body).
- Genetic testing is done with a blood sample obtained by a pediatric phlebotomist (an expert who draws blood) at Children's Colorado. Results usually take about one month.
How do providers at Children's Colorado diagnose NCL?
Providers from specialties such as neurology, ophthalmology, developmental pediatrics and genetics collaborate to review diagnostic test results and arrive at an accurate diagnosis.
How is neuronal ceroid lipofuscinosis (NCL) treated?
There are no specific treatments currently available for NCL outside of research trials. Clinical trials are available for two different forms of NCL, and there is hope that trials may be available for additional forms in coming years.
Children with NCL are seen in the Neurology Clinic for treatment to control seizures. Ophthalmologists will help to manage the visual impairment associated with NCL. Specialists in developmental pediatrics and neuropsychology help families to structure educational plans for children with developmental delays.
Why choose Children's Colorado for the diagnosis and care of NCL?
Rare diseases can be very difficult to diagnose. The experts at Children's Colorado specialize in evaluation for rare diseases and have a history of collaboration to help families find accurate diagnoses.
Helpful resources for NCL (Batten disease)
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