BATTEN
DISEASE |
ALTERNATE
NAMES |
Neuronal Ceroid Lipofuscinoses (NCL); Ceroid Neuronal Lipofuscinosis (CNL); Spielmeyer-Vogt-Sjogren-Batten
disease; Haltia-Santavuori; Jansky-Beilschowsky
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9CM/ICD-10-CM
CODING
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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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Electroencephalogram (EEG);
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Electrical studies of the eyes; and
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Enzyme measurement testing and DNA analysis can confirm a diagnosis of Batten disease.
Physical findings:
Physical symptoms include:
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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
ICD-10: E75.4
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical and neurological examination;
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Electrical studies of the eyes; and
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Suggested Listings for
Evaluation: |
DETERMINATIONS
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LISTINGS
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REMARKS
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Meets |
111.02
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Clinical description of examinations and neurological findings, vision tests, as well
as documentation of lab test findings are needed for this listing.
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111.17
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Clinical description of examinations and neurological findings, vision tests, as well
as documentation of lab test findings are needed for this listing.
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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