Aicardi-Goutieres syndrome is inherited in an autosomal recessive manner. Aicardi-Goutieres Syndrome is mostly either fatal, or else it results in a persistent vegetative state in early childhood. Briefly, it means that both parents of a child with Aicardi-Goutieres Syndrome carry a single copy of the defective gene responsible for the disease.
Nobody can place general development prognoses for children with Aicardi-Goutières syndrome. It depends much on how good or how bad the brain is pronounced. Symptoms of Aicardi-Goutieres Syndrome usually appear within the first six months of life. Generally, the first symptoms observed are vomiting, feeding difficulties, and lack of progress in motor and social skills. Aicardi-Goutieres syndrome is difficult to diagnose, as many of the symptoms overlap with other disorders.
Aicardi-Goutieres syndrome is a innovative disease that dissemble the brain and the immune system, causing brain atrophy and loss of white matter in the brain. The syndrome is often mistaken for a pre-natal virus, but it is actually inherited genetically. The clinical symptoms of the disease are taken into consideration, as well as certain brain abnormalities. There are many families with multiple children affected. It is classified as a leukodystrophy because it affects the myelin, or white matter, of the brain. It usually becomes apparent in the first few months of life. Children become irritable, feed poorly and then develop unusual postures, spasticity and fits. These neurological problems progress, resulting in profound physical and intellectual disability.
Often there are other symptoms including enlarged liver and spleen, and intermittent fevers that also falsely suggest viral infection. Treatment of Aicardi-Goutieres syndrome is symptomatic and supportive. This means that you can treat the symptoms, but there is no cure for the disease. The care of the young Aicardi-goutieres syndrome sufferer is thus undertaken with the aim of improving, as far as possible, his (or her) quality of life, and that of his family, through the provision of assistance, the treatment of intercurrent problems, and the prevention of complications relating to the movement disorder and spasticity associated with the syndrome. Aicardi-Goutieres Syndrome is a rare pathology, but it needs to be understood fully so that it can be diagnosed with certainty.
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