ALTERNATE NAMES

AGS; Cree Encephalitis; Encephalopathy with Basal Ganglia Calcification; Pseudo-TORCH Syndrome; Pseudotoxoplasmosis Syndrome; Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis

DESCRIPTION

Aicardi- Goutieres Syndrome (AGS) is a rare genetic neurodevelopmental disorder characterized by encephalopathy (brain dysfunction) that affects newborn infants and usually results in mental and physical disability. The severe early-onset form affects approximately 20 percent of infants born with AGS and is usually fatal within the first few months of life. Children with the early-onset form are born with neurological deficits and liver abnormalities (enlarged liver and spleen and elevated liver enzymes) that may mimic congenital viral infection. Children with later onset AGS begin having symptoms after the first weeks or months of normal development and experience a progressive decline in head growth, spasticity (weak or stiffened muscles), and moderate to severe developmental delay. Common symptoms and signs include seizures, extreme irritability, inconsolable crying, intermittent fever, loss of developmental skills, visual impairment, joint stiffness, and painful, itchy red skin lesions (chilblains) on the fingers, toes, and ears. Children with later-onset form may have milder neurological problems and live into adulthood. However, nearly all persons with AGS develop profound intellectual disability.

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

Diagnostic testing: A confirmed diagnosis is documented by mutations in one of five known related genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1); Head CT showing calcification of basal ganglia and white matter +/- atrophy, or MRI showing leukodystrophy. Analysis of cerebrospinal fluid for white blood cells and concentrations of alpha interferon and neopterin.

Physical findings: Microcephaly, peripheral spasticity, truncal hypotonia, poor head control, dystonia, characteristic chilblain lesions on hands, feet, and ears.

ICD 9: 348.31

ONSET AND PROGRESSION

The prognosis of AGS depends upon the severity of symptoms and signs, and the age of onset. (See above).

TREATMENT

There is currently no cure for AGS. Treatment is symptom-specific and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Diagnostic clinical history, physical findings, and laboratory studies should be obtained from the claimant’s medical source(s).

  Imaging studies such as MRI/CT brain scans documenting brain abnormalities

• Molecular genetic studies and cerebrospinal fluid analysis

• EEG results (if history suggests seizures)

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08

111.02

111.17

112.02

Medical Equals