Adult-onset dystonia in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome (AGS) is a rare, genetically determined encephalopathy with features mimicking congenital infection (microcephaly, bilateral basal ganglia calcifications, cerebral white matter abnormalities, cerebral atrophy, chronic CSF lymphocytosis, and elevated CSF INF-a). Disease onset usually occurs during the first year of life as a subacute encephalopathy and then the clinical picture appears to stabilize with no further disease progression. Typically, patients are left with limb spasticity, dystonic posturing, and truncal hypotonia, with almost all patients severely intellectually and physically impaired. We report the investigational work-up of an adult-onset dystonia in a patient previously diagnosed with cerebral palsy. A 26-year-old woman with a previous diagnosis of cerebral palsy was referred to botulin toxin treatment. She was the third child of healthy unrelated parents, born full term. The description was of normal psychomotor development until 7 months of age, when subacute illness developed with regression of the majority of milestones. She developed spastic diplegia and completed the ninth grade in regular school at the age of 19. At the age of 24, she noted progressive abnormal posturing of the neck, trunk, and upper limbs. She had two sisters, one of them described as having a severe form of cerebral palsy. Neurological examination revealed a slight mental delay, generalized dystonia with involvement of the face (perioral), neck (retrocollis with left chin deviation), trunk and limbs, with particular involvement of the left upper limb, spastic tetraparesis, predominantly of the lower limbs, with brisk reflexes and flexor plantar response (Fig. 1; Video). Head circumference was normal. There were chilblain lesions on her toes. An MRI, extensive laboratory investigation, and genetics of mitochondrial cytopathies were normal or negative. Observing the family, one sister was normal and the other, a 29-year-old woman, presented profound cognitive delay, intermittent eye contact with no language, severe generalized dystonia and pyramidal tract signs (Video). Chilblain lesions were also identified. She was abnormal since birth and never acquired any psychomotor milestones. A cerebral CT scan revealed multiple spontaneous hyperdense foci in the putamina suggestive of TORCH