ORTHOCHROMATIC LEUKODYSTROPHY WITH PIGMENTED GLIA

Pigmented Type of Orthochromatic Leukodystrophy; Pigmentary Orthochromatic Leukodystrophy; POLD; Orthochromatic Leukodystrophy with Pigmented Glia Cells

Orthochromatic Leukodystrophy with Pigmented Glia is a rare inherited type of adult leukodystrophy that affect the white matter of the brain.

Diagnostic testing: The diagnosis of this disorder is based:

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  Clinical and family history;

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  Neurological exam;

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  Neuropsychological testing; and

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  Neuroimaging, such as computerized tomography (CT) or magnetic resonance imaging (MRI).

Neurological physical findings: The neurological physical findings include:

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  Abnormal gait;

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  Spasticity;

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  Dysarthria (weakness in the muscles used for speech);

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  Ocular apraxia (absence or defect of controlled, voluntary, and purposeful eye movement);

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  Seizures;

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  Rapidly progressive dementia; and

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  Facial and bulbar weakness.

ICD-9: 330.0

Orthochromatic leukodystropy with pigmented glia is progressive and usually fatal. This disorder typically affects adults between the ages of 40-50 years of age. As the disorder progresses some individuals become wheel chair dependent and require feeding via gastrostomy to maintain nutrition and hydration. Death usually occurs within ten years of diagnosis secondary to sepsis infection.

There is no cure for this disorder. Treatment is symptom specific and supportive. Antidepressants and tranquilizers are used to treat psychiatric symptoms.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical information documenting a progressive dementia is critical and required for disability evaluation of orthochromatic leukodystrophy with pigmented glia. The preferable source of this information is the clinical records from the claimant’s medical source(s); and

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  CT/MRI scans of the brain showing abnormal changes in the white matter.

Suggested Listings for Evaluation: