ALPERS DISEASE

ALTERNATE NAMES

Alpers Syndrome; Alpers Progressive Infantile Poliodystrophy; Alpers Huttenlocher Syndrome; AHS; Progressive Neuronal Degeneration of Childhood ; PNDC: Progressive Sclerosing Poliodystrophy; Progressive Infantile Poliodystrophy; Progressive Cerebral Poliodystrophy; Poliodystrophia Cerebri

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. The first symptoms of Alpers disease are usually nonspecific and may include hypoglycemia secondary to underlying liver disease. Other features may include failure to thrive, infection-associated encephalopathy, increased muscle tone or abnormal movements, seizures, or liver failure. Cortical blindness (loss of vision due to damage to the area of the brain that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy may occur.  Dementia is typically episodic, and unremitting seizures may contribute to developmental regression as well.  

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

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

Physical findings: The physical findings of Alpers disease may include poor growth, developmental delay, regression, dementia, cortical blindness, spasticity, myoclonus, jaundice or ascites.

ICD-9: 330.8

ONSET AND PROGRESSION

About 80 percent 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:

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

• EEG reports

• Laboratory tests consistent of hepatic failure

• Activities of daily living report

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

111.02

111.17

112.02

Medical Equals