ALTERNATE NAMES

Haltia-Santavuori disease; CNL1; INCL; NCL; Finnish form of NCL; Santavuori-Haltia disease

DESCRIPTION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Testing for diagnosis of INCL includes:

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  Eye exam to detect a loss of vision;

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  Neurological exam;

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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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  Failure to thrive;

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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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  Seizures.

ICD-9: 330.1

ICD-10: E75.4

PROGRESSION

INCL is the most rapidly progressive of all NCL types. Maximum life expectancy is 12 years of age.

TREATMENT

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.

Suggested MER for

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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.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.02

111.17

Equals