Neuronal Ceroid Lipofuscinoses (NCL); Ceroid Neuronal Lipofuscinosis (CNL); Spielmeyer-Vogt-Sjogren-Batten disease; Haltia-Santavuori; Jansky-Beilschowsky

Batten Disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL), and affects juveniles.

Batten disease is caused by a mutation in the gene CLN3, and usually appears between the ages of 5 and 10. Typical symptoms include vision problems, seizures, personality and behavior changes, slow learning, or clumsiness. Over time, these children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills.

Childhood NCLs are autosomal recessive disorders that are linked to a buildup of substances called lipofuscins (lipopigments) in the body’s tissues. These lipopigments are made up of fats and proteins that build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.

Diagnostic testing: Because vision loss is often an early sign, Batten disease may first be discovered during an eye exam. Often, the child is referred to a neurologist.

Other diagnostic tests for Batten disease include:

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  Blood or urine tests;

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  Skin or tissue sampling;

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  Electroencephalogram (EEG);

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  Electrical studies of the eyes; and

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  Brain scans.

Enzyme measurement testing and DNA analysis can confirm a diagnosis of Batten disease.

Physical findings: Physical symptoms include:

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  Seizures;

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  Clumsiness and stumbling;

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  Curvature of the spine; and

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  Poor circulation in the legs and feet.

ICD-9: 330.1

Children with Batten disease experience seizures, loss of sight and motor skills, and mental impairments, all of which increase in intensity over time. Batten disease is often fatal by the late teens and twenties.

There is no cure for Batten disease. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.

SUGGESTED PROGRAMMATIC ASSESSMENT*

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  Clinical and neurological examination;

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  Blood and urine tests;

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  Skin or tissue sampling;

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  EEG;

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  Electrical studies of the eyes; and

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  Brain scans.

REMARKS

Clinical description of examinations and neurological findings, vision tests, as well as documentation of lab test findings are needed for this listing.