Program Operations Manual System (POMS)
TN 68 (12-23)
DI 23022.425 Infantile Neuronal Ceroid Lipofuscinoses
COMPASSIONATE ALLOWANCES INFORMATION
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INFANTILE NEURONAL CEROID LIPOFUSCINOSES
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ALTERNATE NAMES
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Haltia-Santavuori disease; CNL1; INCL; NCL; Finnish form of NCL; Santavuori-Haltia
disease
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DESCRIPTION
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Infantile Neuronal Ceroid Lipofuscinoses (INCL) is one form of a family of at least eight genetically separate neurodegenerative
disorders that result from excessive accumulation of lipopigments (lipofuscin) in
the body’s tissues. These lipopigments are made up of fats and proteins. The lipofuscin
materials build up in nerve cells and many other organs, including the liver, spleen,
myocardium and kidneys. The Infantile type of NCL (INCL) is caused by the mutation
of the CLN1 gene. The mutation typically results in a deficient form of a lysomal
enzyme called palmitoyl protein thioesterase 1 (PPT1).
Infants affected by INCL appear normal at birth. Visual impairment begins at 6 months,
leading to complete retinal blindness by age 2. Children will typically enter a vegetative
state by age 3; brain death occurs by age 4.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Testing for diagnosis of INCL includes:
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Eye exam to detect a loss of vision;
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Electroencephalogram (EEG) to record the electrical activity in the brain for seizures;
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Computed tomography (CT) scan to detect any decaying brain areas; or
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Magnetic resonances imaging (MRI) to create a picture of the brain;
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Electrical studies of the eyes (visual evoked response (VER) and electroretinography
(ERG)) to detect eye problems;
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Skin or tissue sampling to spot INCL deposits; and
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Enzyme assay that looks for specific missing lysosomal enzymes.
Physical
findings: Physical symptoms include:
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Small head (microcephaly);
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Short, sharp muscle contractions (myoclonic jerks);
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Delayed and deteriorating psychomotor development; and
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ICD-9: 330.1
ICD-10: E75.4
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PROGRESSION
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INCL is the most rapidly progressive of all NCL types. Maximum life expectancy is
12 years of age.
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TREATMENT
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There is no cure for INCL, and no treatments currently exist to slow its progression.
Seizures may be controlled or reduced with the use of anti-epileptic drugs. Additionally,
physical, speech and occupational therapies may help affected individuals retain functioning
for as long as possible.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER
for
Evaluation:
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Laboratory reports showing enzyme activity of the PPT1 enzyme; and
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Complete neurological, ophthalmological, and mental examinations (including intellectual
and psychological functioning) may be needed if one of these examinations alone is
insufficient to meet a listing.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08
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111.02
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111.17
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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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