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AJNR - American Journal of Neuroradiology

Published ahead of print on July 23, 2009
doi: 10.3174/ajnr.A1694

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American Journal of Neuroradiology 30:1971-1976, November-December 2009
© 2009 American Society of Neuroradiology

PEDIATRICS

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

C. Uggetti^a, R. La Piana^b, S. Orcesi^b, M.G. Egitto^c, Y.J. Crow^d and E. Fazzi^b,e

^aFrom the Paediatric Neuroradiology Unit (C.U.), Department of Neuroradiology
^bDepartment of Child Neurology and Psychiatry (R.L.P., S.O., E.F.), IRCCS "C. Mondino Institute of Neurology" Foundation, Pavia, Italy
^cDepartment of Radiology (M.G.E.), Pavia Provincial Hospital Authority, Voghera Section, Voghera, Italy
^dAcademic Unit of Medical Genetics (Y.J.C.), St. Mary's Hospital, Manchester, UK
^eDepartment of Child Neuropsychiatry, University of Brescia (E.F.), Brescia, Italy.

Please address correspondence to Carla Uggetti, MD, Neuroradiology Unit, Department of Radiology, San Carlo Borromeo Hospital, via Pio II, 3, 20153 Milan, Italy; e-mail: carla.uggetti{at}mondino.it

BACKGROUND AND PURPOSE: To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease.

MATERIALS AND METHODS: Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the ² test.

RESULTS: Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal (P = .024) and temporal (P = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time.

CONCLUSIONS: The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome.