Batten disease also known as spielmeyer-vogt-sjoogren-batten named after the British pediatrician who first described it in 1903 is a fatal, inherited disorder of the nervous system that begins typically in childhood. It usually starts in childhood, between the ages of 5 and 10 and is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).

What causes Batten disease?

Batten disease is an inherited genetic disorder that appears to affect the function of tiny bodies within cells called lysosomes. Lysosomes are the “recycle bin” of the cell and regularly break down waste, proteins, and naturally occurring fatty compounds called lipids into smaller components that can be discarded out of the cell or recycled. Lipids include fatty acids, oils, waxes, and sterols.

In Batten disease/ the neuronal ceroid lipofuscinoses NCLs, the mutated genes do not produce the proper amounts of proteins important for lysosomal function. Each gene (representing a form of the disease) provides information for a specific protein that is in turn, defective and not produced. These proteins are needed for brain cells (neurons) and other cells to work efficiently. The lack of a functional protein causes the abnormal buildup of “junk” material in the lysosomes—as well as the abnormal buildup of the residue called lipofuscin that occurs naturally as part of the lysosomal breakdown of lipids. It is not known whether the lipofuscin itself is toxic or if the buildup is a marker of impaired lysosomal function.

What are the signs and symptoms of batten disease?

The signs and symptoms of batten disease include:

Loss of speech

Vision loss

Personality changes

Seizure

Developmental regression

Loss of motor skill

There are four main types of Batten Disease/ Neuronal ceroid lipofuscinoses (NLC), including two forms that begin earlier in childhood and a very rare form that strikes adults. The signs and symptoms are similar but they become apparent at different ages and progress at different rates.

Types of Batten Disease/ Neuronal ceroid lipofuscinoses (NLC)

Originally, doctors only referred to one form of Neuronal ceroid lipofuscinoses (NCL) as Batten disease, but now the name refers to the group of disorders.

1. Congenital Neuronal Ceroid Lipofuscinoses (NCL)

This type of batten/Neuronal ceroid lipofuscinoses (NLC) affects babies and can cause them to be born with seizures and abnormally small heads. It is very rare, and often results in death soon after a baby is born.

2. Infantile Neuronal Ceroid Lipofuscinoses (INCL)

This shows up between the ages of 6 months and 2 years and can cause microcephaly, as well as sharp contractions (jerks) in the muscles.

3.Late Infantile Neuronal Ceroid Lipofuscinoses (LINCL)

It starts between the ages of 2 and 4 with symptoms like seizures that don’t get better with medication. It includes the loss of muscle coordination. Late Infantile neuronal Ceroid Lipofuscinoses (LINCL)is usually fatal by the time a child is 8 to 12 years old.

4. Adult  Neuronal Ceroid Lipofuscinoses (ANCL)

This starts before the age of 40. People who have it have shorter existence (life) spans; however the age of death can vary from person to person. The symptoms of Adult Neuronal Ceroid Lipofuscinoses(ANCL) are mild and they tend to progress more slowly.

Diagnosis and Tests

Batten is often misdiagnosed, because it is rare and many conditions share some of the same symptoms. Since vision loss is commonly one of the earliest signs and symptoms of the disorder, eye doctors can be the primary ones to suspect a problem. Multiple tests and exam might be needed earlier before your health practitioner (doctor) makes a diagnosis. Doctors frequently refer children to neurologists if they think they need greater assessments.

There are different forms or kinds of tests a neurologist can use to diagnose Batten disease:

1. Blood or urine tests:

Doctors can look for certain forms of abnormalities in blood and urine samples which can imply Batten disease.

2.Electroencephalogram (EEG):

 This test involves putting patches on the scalp to record the brain’s electrical currents and to look for seizures.

3. Imaging tests:

Computed tomography (CT) scans or magnetic resonance imaging (MRIs) can help a health practitioner see if there are certain changes inside the brain that imply Batten disease.

4.Tissue samples or eye exam:

By inspecting tissue samples underneath a microscope, doctors can search for the buildup of sure varieties of deposits. Sometimes doctors can see these deposits just by searching into a child’s eyes. As the deposits begin to build up over time, they tend to cause pink and orange circles to develop. This is referred to as “bull’s eye.”

Is there any Treatment for Batten disease?

There is currently no known remedy for any form of Batten disease. Sign and Symptoms like seizures can be improved with certain medications. Other symptoms and issues can be treated too. Some person with Batten gets physical or occupational therapy to help them function. Scientists continue to investigate possible treatments and therapies.

Reviewed on 9/4/2020

REFERENCES
“Batten Disease Fact Sheet”. National Institute of Neurological Disorders and Stroke. Retrieved9November2017.

Cialone J, Adams H, Augustine EF, et al. (May 2012). “Females experience a more severe disease course in Batten disease”. Journal of Inherited Metabolic Disease. 35 (3): 549–55. Doi:10.1007/s10545-011-9421-6. PMC 3320704. PMID 22167274.

https://brainfoundation.org.au/disorders/batten-disease/

https://www.webmd.com/children/batten-disease#2

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Batten-Disease-Fact-Sheet.