From: Encephalopathies with intracranial calcification in children: clinical and genetic characterization
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. |