Article
A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome.
Neuropediatrics - 1 Feb 1999
Ostergaard J R, Christensen T, Nehen A M
Abstract excerpt
Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutières syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological...
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