ALTERNATE NAMES

Alpers Progressive Infantile Poliodystrophy; Alpers Syndrome; Diffuse Cerebral Sclerosis of Schilder; Progressive Cerebral Poliodystrophy; Progressive Sclerosing Poliodystrophy

DESCRIPTION

Alpers disease is a progressive, neurodevelopmental syndrome characterized by psychomotor regression (dementia), seizures, and liver disease. A mutation in the gene for the mitochondrial DNA polymerase, POLG, causes this disease. Most affected individuals do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.  

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

Diagnostic testing: The diagnosis is established by testing for the POLG gene.

Physical findings: The physical findings of Alpers disease may include:

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  Poor growth;

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  Hypoglycemia (abnormally low blood sugar) secondary to underlying liver disease;

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  Developmental delay;

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  Failure to thrive;

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  Infection-associated encephalopathy;

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  Spasticity (increased muscle tone or abnormal movements);

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  Seizures;

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  Liver failure;

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  Gastrointesinal dysfunction;

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  Cardiomyopathy (enlarged heart);

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  Regression;

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  Dementia;

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  Cortical blindness;

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  Myoclonus (uncontrollable jerking movements);

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  Jaundice (yellowing of the skin or whites of the eyes); or

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  Ascites (fluid buildup in the abdomen).

ICD-9: 330.8

ICD-10: G31.81

PROGRESSION

About 80% of children with Alpers disease develop symptoms in the first two years of life, and the rest develop symptoms between the ages of 2 and 25.

The prognosis is poor, with death usually occurring within ten years after diagnosis due to liver failure, cardiorespiratory failure, or unremitting seizures.

TREATMENT

There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsant medications may be used to treat the seizures, with usually poor medical response. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the progression of neurological and cognitive decline from the claimant’s medical source(s);

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  Electroencephalogram (EEG) reports;

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  Laboratory tests consistent of hepatic failure; and

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  Activities of daily living report.

Suggested Listings for Evaluation:

DETERMINATION

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