Batten Disease

Experts at Arkansas Children’s specialize in the diagnosis and management of rare diseases, including Batten disease, also called Neuronal Ceroid Lipofuscinosis (NCL). Batten disease is a rare inherited disorder of the nervous system that typically begins in childhood between the ages of 5 to 10, although it can be diagnosed at younger or older ages.
 
At Arkansas Children’s, we have a dedicated pediatric neurology team with the expertise to accurately and effectively diagnose patients with Batten disease. Working together with a range of pediatric specialists, we determine the ideal treatment plan for optimal care, including neuro-physical medicine and rehabilitation. Our expertise and compassion help families address the challenges of Batten disease to achieve a better quality of life.

Symptoms of Batten Disease

A person can develop Batten disease any time from infancy to adulthood, though early childhood is the most common time for the first symptoms to occur. Symptoms like progressive vision loss and seizures are among the initial difficulties. Other symptoms may include:

• Ataxia, or the loss of full control of bodily movements
• Behavioral problems
• Cognitive decline
• Extrapyramidal symptoms such as spasms, restlessness, rigidity, tremors or jerky movements
• Loss of speech
• Personality changes
• Potential cardiac problems
• Progressive loss of motor functions, including clumsiness, stumbling and Parkinson-like symptoms
• Psychosis, hallucinations and dementia

Children with Batten disease eventually become wheelchair-bound or are bedridden.

Confirming a Diagnosis of Batten Disease

Our providers from specialties such as neurology, ophthalmology, developmental pediatrics and genetics collaborate to review diagnostic test results and arrive at the diagnosis of Batten disease. Tests may include:

• Blood tests: Abnormal or vacuolated lymphocytes (white blood cells) are found in juvenile Batten disease.
• Brain scans: Brain imaging, including computed tomography or CT and magnetic resonance imaging or MRI, can identify changes in the brain’s appearance. These sophisticated technologies can detect certain brain areas that may be shrinking in children with juvenile Batten disease.
• DNA analysis: Screening a child’s DNA blueprint obtained from blood, saliva or skin can help doctors identify mistakes in the CLN3 gene responsible for juvenile Batten disease.
• Electroencephalogram (EEG): Physicians use painless and noninvasive EEGs to look for markers for seizures typical of juvenile Batten disease.
• Fluorescent deposits: These deposits are a hallmark sign of Batten disease, often called a “bull’s eye”. Over time, the deposits become more pronounced and the thickness of the retina is reduced. Ophthalmologists see circular bands of different shades of pink and orange at the optic nerve and retina in the back of the eye.
• Genetic testing: Our genetics and metabolic team at Arkansas Children’s provides expert genetic testing for the accurate and early diagnosis of Batten disease. 
• Measurement of enzyme activity: Measuring the level of the Infantile (CLN1) and Late Infantile (CLN2) in white blood or skin cells can separate juvenile (CLN3) Batten disease from enzyme-deficient NCLs.
• Skin biopsy or tissue sampling: Specific microscopic characteristics of Batten disease can be present in certain skin structures.
• Urine tests: Urine tests can detect the presence of elevated levels of dolichols, or long chain mostly unsaturated organic compounds, which can be found in the urine of many patients with Batten disease.
• Visual Evoked Potentials and Electroretinograms: These are recordings of abnormal electrical signals in the visual processing center of the brain.

Treatment

Batten’s disease (CLN2) patients benefit from a new medication called Brineura^®. This drug can help slow the loss of walking ability in children with Batten disease, which is a very serious inherited nervous system disorder that typically begins in childhood.

Research is Key to Disease Management

While there is no current cure for Batten disease, innovations in research and potential clinical trials are improving the management of this rare disease. Some of our patients with Batten disease are benefitting from a new medication called Brineura^® to help slow the loss of walking ability.

Our team of pediatric specialists at Arkansas Children’s use these research innovations to help children of all ages with Batten disease. For example, patients are seen in the neurology clinic for medications to control seizures. Arkansas Children’s ophthalmologists work closely with the team to support the unique vision needs of our young patients. And specialists in developmental pediatrics and neuropsychology help families to structure educational plans for children.

Learn More About Batten Disease

Our Batten Disease Clinic is available by physician referral. If you would like your child to be referred to Arkansas Children's, please have your doctor call 501-364-4000. If your child does not have a primary care physician, please call 501-364-4000 and we will be happy to recommend one in your area.