Batten disease—also known as Spielmeyer-Vogt-Sjögren-Batten disease—is a rare, fatal autosomal-recessive neurodegenerative disorder named for the British pediatrician who identified the condition in 1903. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCLs).  The disease is characterized by a build-up of material in most cells, and the neuronal cells of the brain that are affected age rapidly and die. Symptoms of the disease are linked to an overabundance of lipopigments in the body’s tissues. These lipopigments comprise proteins and fats and accumulate in cells of the brain, eye, skin, muscle, and other tissues. Within the cells, these pigments form specific, distinct deposits that can be recognized under an electron microscope. They may look like half-moons or commas, fingerprints, or sand deposits.

Batten disease affects an estimated 2 to 4 of every 100,000 live births in the United States. The disease is more common in Finland, Sweden, northern Europe, and Canada. The typical patient with Batten disease presents with progressive neurological impairment, which could include seizures, visual impairment advancing to blindness, personality and behavioral changes, dementia, diminishment of motor skills, and loss of the ability to walk and talk. Batten usually presents in young children, even in infancy, but can have sudden onset in older children and even adults. 

As the genetic mutations associated with Batten disease can vary greatly, presentation can be very different from patient to patient.  It could take years to develop symptoms; some patients may appear normal for several years, and then experience rapid deterioration.  Early symptoms typically appear between ages 5 and 10 years, and vision loss is often an early sign of the disease.  Other early symptoms could include changes in behavior and/or lack of coordination.  An ophthalmologist can detect the loss of cells within the eye that occurs in childhood forms of Batten disease.  However, the same type of cell loss can occur in other diseases; therefore, the eye specialist will most likely refer the patient to a neurologist for further testing. Families have reported that diagnosing Batten disease can be a long and arduous process.

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The severity of symptoms in Batten disease—including cognitive impairment, seizures, visions loss, and dementia—most often cause patients to become wheelchair bound and then bedridden. This rare disease is fatal. Although research efforts are ongoing, there is currently no treatment available to slow down or reverse the effects of the disease.  Treatment is therefore symptomatic and palliative.

Reference

  1. Batten Disease Support and Research Association. http://bdsra.org/what-is-batten-disease/.
  2. NCL Resource: A Gateway for Batten Disease. http://www.ucl.ac.uk/ncl/batten.shtml
  3. Noah’s Hope. http://www.noahshope.com/index.php

Topics:

Batten Disease Neurodegenerative Disorder Rare Disease Seizure Disorders