Article
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
Neuropediatrics - 1 Dec 2014
La Piana Roberta, Tran Luan T, Guerrero Kether, Brais Bernard, Levesque Sébastien, Sébire Guillaume, Riou Emilie, Bernard Geneviève
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder with inflammatory immune-mediated pathogenesis. Disease onset is most commonly marked by recurrent fevers, irritability, and developmental regression in the 1st year of life. A stable phase characterized by severe spastic quadriparesis and cognitive deficit follows. Brain calcifications, leukoencephalopathy, and cerebral atrophy are the radiological...
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