Aicardi Goutieres Syndrome

Definition

Definition of Aicardi Goutieres Syndrome
Aicardi–Goutières syndrome is a rare immune-mediated neurodevelopmental genetic disorder caused by the mutation of any of the five genes described below. It is also known as Cree encephalitis and pseudo-TORCH syndrome, both of which were once considered separate disorders. It is a type of leukodystrophy and is usually fatal within the first few years. It is autosomal recessive and presents within the first few weeks of life.

Symptoms

Symptoms of Aicardi Goutieres Syndrome
Aicardi–Goutières syndrome is rare, with only about 50 cases having been described, although due to its phenotypic simmilarity to congenital viral encephalopathy it may be under-diagnosed.

Causes

Causes of Aicardi Goutieres Syndrome
Later work mapped the Aicardi–Goutières syndrome to chromosome 3p21 and suggested that the two, along with the pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome were the same disorder.

The condition has been associated with TREX1. Due to the rarity of mutations in the genes associated with the disease, and its autosomal recessive nature, cases are isolated to consanguineous families. As such, it is frequently described as an autozygosity disease.

Diagnosis

Diagnosis of Aicardi Goutieres Syndrome
The diagnosis can be made with confidence in individuals with typical clinical findings, characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), and identifiable mutations in one of the five known related genes. Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 are identified in approximately 90% of individuals with characteristic clinical and radiologic findings of AGS; such testing is clinically available. At least one other gene in which mutations are disease causing is postulated but remains unknown.

Treatment

Treatment of Aicardi Goutieres Syndrome
Current treatment is supportive, involving management of seizures and spasticity associated with the syndrome.

Prognosis

Prognosis of Aicardi Goutieres Syndrome
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.

Prevention

Prevention of Aicardi Goutieres Syndrome
Consult with your doctor.