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Batten Disease

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Batten disease is a rare progressive condition that affects children. This hard-hitting disease is very difficult to explain to kids. This article will cover some facts related to batten disease and help you know more about this debilitating condition.

Introduction

Batten disease is a progressive, inherited disorder that affects the nervous system. This fatal condition typically begins in childhood. The affected child lives the early years of life quite normally, free from any symptoms. It is named after the British pediatrician, Frederick Batten, who first described the condition in 1903. The condition is also known as Spielmeyer-Vogt-Sjögren-Batten disease.

Batten disease is the most common form of disorder belonging to the neuronal ceroidlipofuscinosis (NCLs). The condition causes seizures, progressive loss of sight, motor skills as well as mental impairment. This debilitating condition causes the affected child to turn blind, bedridden, lose the ability to communicate and finally proves to be fatal.

How Does One Inherit Batten Disease?

Batten disease or juvenile NCL is an autosomal recessive disorder. The condition occurs only when he/she inherits two copies of the defective gene. This means, both parents must be carriers of the defective gene. Those who carry just one copy of the gene, do not develop the symptoms, but are known to be carriers. They can pass on this defective gene to their children, who can possibly develop Batten disease.

Symptoms of Batten Disease

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Each and every child is different. Thus, the severity and the symptoms of the disease are different in different children. The symptoms of Batten disease begin mostly between 5 to 10 years. Batten disease leads to:

  • Progressive loss of vision
  • Epilepsy
  • Changes in behavior, personality, slow learning, regression, repetitive speech, clumsiness, stumbling, etc. as initial symptoms
  • In some cases, one may observe slowing head growth in infantile form
  • Loss of ability to walk, eat and even talk as the disease progresses
  • The child finally becomes bedridden, demented, blind
  • Death

Causes of Batten Disease

The defective genes lead to a buildup of lipopigments in the body’s tissues. These pigments are made of fats and proteins. The lipopugments buildup everywhere in the body, the brain, eye, skin, muscle and other tissues.They cause death of the neurons present in the brain, retina and central nervous system. What leads to the neuron death is still under research.

They appear greenish-yellow under an ultraviolet light microscope. Some of these appear as half-moons or a comma and are called as curvilinear bodies. Those that appear as fingerprints are called as fingerprint inclusion bodies. Those who look like sand are called as granular osmophilic deposits (GRODS).

Diagnosis of Batten Disease

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Loss of vision is one of the early signs of Batten disease. Thus, it is often suspected during an eye examination. The eye doctor will then refer the child to a neurologist, if he suspects Batten disease. The neurologists will conduct further tests that includes:

  • Skin or tissue biopsy to observe lipopigments
  • Electroencephalogram
  • Electrical studies of the eyes that includes visual-evoked responses (VER) and electro-retinagrams (ERG)
  • CT Scan
  • MRI
  • Enzyme assay to look for specific mission lysosomal enzymes
  • Genetic/ DNA testing

Treatment for Batten Disease

There is no treatment for Batten disease till date. Anticonvulsant drugs can help reduce the seizures. Physical and occupational therapy may help with the other symptoms related to movement and muscle function.

Prognosis for Batten Disease

Children with Batten disease become blind with time and are totally bedridden. Soon, death overcomes their suffering during the late teens or early 20s.

If there is even one case of Batten disease within the family, it is important to undergo genetic testing. This will help one know if they are carriers of the defective gene. If the family already knows the condition runs in the family, it is advisable the pregnant woman undergoes prenatal diagnosis using chorionic villus sampling. This will help one know if the unborn child is affected by genetic mutation. This condition is very hard on the child as gradually they lose the ability to see, talk, walk and even their mental function. Thus, family support is of utmost importance when it comes to helping a child affected with Batten disease.

Written by: Saptakee sengupta
Date last updated: April 06, 2015