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From the Departments of Child Neurology and Psychiatry (Drs. Lanzi, Fazzi, DArrigo, Orcesi, Maraucci) and Neuroradiology (Dr. Uggetti), IRCCS "C. Mondino Institute of Neurology," University of Pavia, and Department of Laboratories (Dr. Bertini), Unit of Molecular Medicine, Bambino Gesù Childrens Research Hospital, Rome, Italy; and Department of Infectious Diseases and Virology (Dr. Lebon), St. Vincent de Paul Hôpital, René Descartes University, Paris, France.
Address correspondence and reprint requests to Dr. G. Lanzi, Department of Child Neurology and Psychiatry, IRCCS "C. Mondino Institute of Neurology," University of Pavia, Via Mondino 2, 27100 Pavia, Italy; e-mail: glanzi{at}unipv.it
Described are the outcomes of 11 Italian patients with AicardiGoutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-
measurements (three patients) showed reduced CSF interferon-
levels.
Supported by a grant from the "Fondazione Cariplo," Italy.
Received May 27, 2004. Accepted in final form January 17, 2005.
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S. Orcesi, R. La Piana, and E. Fazzi Aicardi-Goutieres syndrome Br. Med. Bull., March 1, 2009; 89(1): 183 - 201. [Abstract] [Full Text] [PDF] |
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