BATTEN DISEASE

ALTERNATE NAMES

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

DESCRIPTION

Batten disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL). There are four forms of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults.

The first type is Infantile NCL (Santavuori-Haltia disease), caused by a mutation of the gene CLN1 and begins between 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. These children usually die before age 5, although some have survived in a vegetative state a few years longer.

The second type is Late Infantile NCL (Jansky-Bielschowsky disease), caused by a mutation of the gene CLN2 and begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12.

The third type, Juvenile NCL (Spielmeyer-Vogt-Sjogren-Batten disease), is caused by a mutation in the gene CLN3 and usually appears between the ages of 5 and 10 and may 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. The disease is usually fatal by late teens or twenties. (An adult NCL disorder called Kufs disease or Parry’s disease, generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness.)

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, PHYSICAL FINDINGS, AND ICD-9-CM CODING

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.

Diagnostic tests for Batten disease include

• blood or urine tests,

• skin or tissue sampling,

• an electroencephalogram (EEG),

• electrical studies of the eyes, and

• brain scans.

Enzyme measurement testing and DNA analysis (when available) is diagnostic of this disorder.

ICD 9: 330.1 Cerebral lipidoses

ONSET AND PROGRESSION

Progression of the disease is blindness and a bedridden and demented state. Eventually, children with Batten disease experience worsening seizures, progressive loss of sight and motor skills, and mental impairments. Batten disease is often fatal by the late teens and twenties.

TREATMENT

There are no specific treatments that can halt or reverse the symptoms of Batten disease. However, 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*

Suggested MER for Evaluation: Clinical and neurological examination, blood and urine tests, skin or tissue sampling, EEG, electrical studies of the eyes, and brain scans.

Suggested Listings for Evaluation:

DETERMINATIONS

LISTING

REMARKS

Meets Listing

111.02
111.17

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

Medical Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.