An increase in the number of white cells particularly lymphocytes in the CSF,  and high levels of interferon-alpha activity and neopterin in the CSF    are important clues - however, these features are not always present. Thus, this interferon signature appears to be a very good marker of disease. Neuroradiology: The spectrum of neuroradiological features associated with AGS is broad,   but is most typically characterised by the following: Cerebral calcifications: Calcifications on CT computed tomography are seen as areas of abnormal signal, typically bilateral and located in the basal ganglia, but sometimes also extending into the white matter. Calcifications are usually better detected using CT scans and can be missed completely on MRI without gradient echo sequences magnetic resonance imaging. Signal changes can be particularly prominent in frontal and temporal regions. White matter abnormalities sometimes include cystic degeneration.
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Publications Definition Aicardi-Goutieres syndrome AGS is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function.
The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes.
Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles spasticity , and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills.
Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease.
AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid CSF , taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell a lymphocyte , which indicates a condition known as chronic lymphocytosis.
These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.
NOTE: AGS is distinct from the similarly named Aicardi syndrome characterized by absence of a brain structure corpus callosum , and spinal, skeletal, and eye abnormalities. View Full Definition Treatment Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding.
Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.
The prognosis depends upon the severity of symptoms. View Full Treatment Information Definition Aicardi-Goutieres syndrome AGS is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap.
Treatment Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. Prognosis The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. Almost all children with AGS have mild to severe intellectual and physical impairment.
Aicardi-Goutieres Syndrome Information Page
Symptoms of Aicardi-Goutieres Syndrome usually appear within the first six months of life. Aicardi-Goutieres Syndrome is generally either fatal, or else it results in a persistent vegetative state in early childhood. Generally, the first symptoms observed are vomiting, feeding difficulties, and lack of progress in motor and social skills. A subset of patients has a later onset of disease, which usually occurs between six-twelve months of age, and is marked by loss of previously acquired motor skills and spasticity. However, in some cases, there can be less impairment, and some retention of contact with surroundings and social interactions.
It is a type of leukodystrophy , a group of conditions that affect the white matter of the brain. These diseases damage the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and speeds transmission of messages between cells. It is the loss of myelin that is responsible for the symptoms of AGS. Most children with AGS end up with mild to severe intellectual or physical impairments. The mutation leads to a buildup of small pieces of DNA in the brain, which is thought to trigger the immune response that leads to the symptoms of AGS.