Program Operations Manual System (POMS)
TN 30 (08-20)
DI 23022.665 Aicardi--Goutieres Syndrome
COMPASSIONATE ALLOWANCES
INFORMATION |
AICARDI-GOUTIERES
SYNDROME
|
ALTERNATE NAMES
|
AGS; Aicardi Goutieres Syndrome; Cree Encephalitis; Encephalopathy with Basal Ganglia
Calcification; Familial Infantile Encephalopathy with Intracranial Calcification and
Chronic Cerebrospinal Fluid Lymphocytosis; Pseudotoxoplasmosis Syndrome; Pseudo-TORCH
Syndrome
|
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.
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing:
The diagnosis of AGS is established by:
-
•
Reports of genetic testing of mutations in one of five known related genes (TREX1,
RNASEH2A, RNASEH2B, RNASEH2C);
-
•
Head CT showing calcification of basal ganglia and white matter +/- atrophy; or
-
•
Magnetic resonance imaging (MRI) showing leukodystrophy.
Physical findings: The signs and symptoms of AGS may include:
-
-
•
Peripheral spasticity (weak or stiffened muscles) ;
-
•
Truncal hypotonia (decreased muscle tone);
-
-
•
Dystonia (involuntary muscle contractions that cause repetitive or twisting movements);
-
•
Characteristic painful itchy, red skin lesions (chilblains) on hands, feet, and ears;
and
-
•
Profound intellectual disabillity.
Children with the early-onset form of AGS may have:
-
-
•
Hepatosplenomegaly (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 monhs
or normal development. Then, they may experience:
-
•
Moderate to severe developmental delay;
-
-
-
-
-
•
Loss of developmental skills;
-
-
ICD-9:
348.9
ICD-10:
G31.8
|
PROGRESSION
|
The prognosis of AGS depends upon the severity of symptoms and signs, and the age
of onset.
|
TREATMENT
|
Currently there is not cure for AGS. Treatment is symptom-specific and supportive. |
SUGGESTED PROGRAMMATIC ASSESSMENT*
|
Suggested MER for
Evaluation:
-
•
Clinical history and examination that describes the diagnostic features of the impairment;
-
•
Imaging studies such as MRI/CT brain scans documenting brain abnormalities;
-
•
Molecular genetic studies and cerebrospinal fluid analysis; and
-
•
EEG results (if history suggests seizures).
|
Suggested Listings for Evaluation:
|
DETERMINATION
|
LISTING
|
REMARKS
|
Meets
|
110.08
|
|
111.02
|
|
111.17
|
|
112.02
|
|
Equals
|
|
|
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
|