Program Operations Manual System (POMS)
TN 68 (12-23)
DI 23022.435 Late Infantile Neuronal Ceroid Lipofuscinoses
COMPASSIONATE ALLOWANCES INFORMATION
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LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSES
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ALTERNATE NAMES
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Jansky-Bielchowsky disease; NCL2; LINCL
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DESCRIPTION
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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.
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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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EEG to record the electrical activity in the brain for seizures;
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CT scan to detect any decaying brain areas;
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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 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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Decline in motor skills; and
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ICD-9: 330.1
ICD-10: E75.4
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PROGRESSION
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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.
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TREATMENT
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There is no cure for LINCL. Brineura (cerliponase alfa) has shown to be effective
in slowing the loss of motor function in children with NCL2. 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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LISTINGS
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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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