Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Table 3 AGS diagnostic criteria

1	Early onset encephalopathy with psychomotor delay, spasticity, extrapyramidal signs and microcephaly, the latter appearing in the course of the first year of life.
2	Calcifications particularly visible at basal ganglia level (putamen, pallidus and thalamus), but also extending to the periventricular white matter.
3	Cerebral white matter abnormalities.
4	Cerebral atrophy.
5	Exclusion of pre−/perinatal infections, in particular the TORCH complex (toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus).
6	Chronic lymphocytosis (> 5 cells/mm3) on CSF examination, not accompanied by any other sign of an infectious process.
7	Raised INF-alpha in the CSF (> 2 IU/ml).
8	Elevated neopterins and biopterins in CSF, sometimes associated with decreased folates.
9	Important systemic symptoms in the early stages of the disease include irritability, feeding and sleeping difficulties, unexplained fevers and the appearance of chilblain-like skin lesions on the fingers, toes and ears.
10	Genetic screening for mutations in the seven genes known to cause AGS allows definitive confirmation of the diagnosis in the majority (95%) of cases.

Criteria 1–5 plus criteria 6 or 7 were considered necessary to estabilish the clinical diagnosis of AGS. Criteria 8–10 were considered supportive criteria

ISSN: 1750-1172