ALTERNATE NAMES

Jansky-Bielchowsky Disease; LINCL; NCL2

DESCRIPTION

Late infantile neuronal ceroid lipofuscinoses (LINCL) is a rare, inherited disorder of the nerve cells that are caused by a mutation of the CLN2 gene. It is one form of a family of at least eight genetically separate neurodegenerative disorders. The condition causes excessive accumulation of lipfuscin in the body’s tissues. The lipofuscins are made up of fats and proteins. The lipofuscins build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.

The late infantile form of this disease begins between the ages of 2 and 4, usually starting with partial and generalized seizures. Children with this disorder show signs of loss of muscle coordination (ataxia), regression of developmental milestones, followed by decline in intellectual and cognitive functioning, and rapidly progressing visual impairments. Some children may show mild-severe delays in speech development well before other symptoms appear.

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

Diagnostic testing: Testing for diagnosis of LINCL includes:

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  Eye exam to detect a loss of vision;

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  Neurological exam;

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  Electroencelphalogram (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;

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  Magnetic resonance imaging (MRI) to create a picture of the brain;

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  Electrical studies of the eyes (VER and ERG) to detect eye problems;

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  Skin or tissue sampling to spot LINCL deposits; and

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  Enzyme assay that looks for specific missing lysosomal enzymes.

Physical findings: Physical symptoms include:

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  Vision loss;

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  Decline in motor skills; and

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  Seizures.

ICD-9: 330.1

ICD-10: E75.4

PROGRESSION

Children with LINCL usually develop severe disabilities and have considerable nursing care needs by mid-childhood. LINCL progresses rapidly with survival depending on the degree of supportive care provided.

TREATMENT

There is no cure for LINCL. Brineura (cerliponase alfa) has shown to be effective in slowing the loss of motor function in children with CLN2. 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 PROGRAMMATIC ASSESSMENT*

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.

Suggested Listings for Evaluation:

DETERMINATION

LISTINGS

REMARKS

Meets

110.08

111.02

111.17

Equals