ORTHOCHROMATIC LEUKODYSTROPHY WITH PIGMENTED GLIA

ALTERNATE NAMES

Pigmented Type of Orthochromatic Leukodystrophy; Pigmentary Orthochromatic Leukodystrophy; POLD; Orthochromatic Leukodystrophy with Pigmented Glia Cells; Adult Onset Leukodystrophy; Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; ALSP

DESCRIPTION

Orthochromatic Leukodystrophy with Pigmented Glia is a rare inherited type of adult leukodystrophy that affect the white matter of the brain. This disorder is characterized by seizures, rapidly progressive dementia and gait disturbance. This disorder has features that are similar to Alzheimer disease and frontotemporal dementia.

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

Diagnostic testing: The diagnosis of this disorder is based on the combination of clinical and family history, neurological exam, neuropsychological testing, and neuroimaging. A definitive diagnosis of this disorder can only be made by a brain biopsy or postmortem examination of the brain. Neuroimaging, such as computerized tomography (CT) or magnetic resonance imaging (MRI) is useful to demonstrate changes in the brain and to exclude other causes of dementia.

Neurological physical findings: The neurological physical findings include abnormal gait, spasticity, dysarthria, ocular apraxia, and facial and bulbar weakness.

ICD-9: 330.0

ONSET AND PROGRESSION

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.

TREATMENT

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:

• 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).

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets Listing

11.17

12.02

Medical Equals