Article
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
Neurology - 9 Sept 2003
Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V
Abstract excerpt
OBJECTIVE: To describe three unrelated children with a distinctive variant of Aicardi-Goutières syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures. RESULTS: Neuroimaging showed bilateral calcification of basal ganglia and white matter. CSF glucose, protein, cell count, and interferon alpha were normal. Abnormal CSF findings included...
Topics
- Basal Ganglia
- Brain Diseases
- DNA Mutational Analysis
- Decalcification, Pathologic
- Dyskinesias
- Female
- Fibroblasts
- Folic Acid
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Intracellular Signaling Peptides and Proteins
- Leucovorin