Aicardi–Goutières syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Specific Imaging Findings, The cardinal features of Aicardi-Goutières syndrome (AGS) on brain imaging consist of intracranial calcification, leukodystrophy, and cerebral atrophy. CT scan may be normal in the earliest stages of the disease, but almost invariably shows extensive calcifications involving the basal ganglia, thalami, periventricular white matter, and cerebellum. Calcifications are not always recognized on MRI; when seen, they appear as T2 hypointense, T1 hyperintense spots that stand out against the background of diffusely dysmyelinated white matter, and are better depicted on susceptibility-weighted (T2*) sequences. The abnormal signal (mild T1 hypointensity and moderate to marked T2 hyperintensity) in bilateral supratentorial white matter ranges from just periventricular involvement in milder cases to a striking frontotemporal leukodystrophy with temporal cystic lesions in the most severely affected patients. Abnormal white matter shows two patterns of distribution: diffuse or anteroposterior gradient, each present in about half of the patients. Infra-tentorially, the pyramidal tracts within the medulla oblongata may be involved while the cerebellum is spared. Cortical atrophy can already be present at the onset and progresses over time; the corpus callosum may be markedly atrophic. Pertinent Clinical Information, Affected patients present during early infancy with a rapidly progressive picture characterized by feeding difficulties, delayed psychomotor development, progressive microcephaly, irritability, truncal hypotonia with limb spasticity and dystonic ocular and buccolingual movements, convulsions, opisthotonus, and blindness. Demise usually occurs within a few months or years in these severe forms, although patients with apparently static or slowly progressive disease, sometimes presenting after several months of normal development, have also been reported.

Original languageEnglish
Title of host publicationBrain Imaging with MRI and CT: An Image Pattern Approach
PublisherCambridge University Press
Pages385-386
Number of pages2
ISBN (Print)9781139030854, 9780521119443
DOIs
Publication statusPublished - Jan 1 2010

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Cerebellum
Atrophy
Aicardi Syndrome
Microcephaly
Medulla Oblongata
Pyramidal Tracts
Muscle Hypotonia
Corpus Callosum
Blindness
Eye Movements
Basal Ganglia
Thalamus
Neuroimaging
Seizures
Extremities
White Matter

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Rossi, A. (2010). Aicardi–Goutières syndrome. In Brain Imaging with MRI and CT: An Image Pattern Approach (pp. 385-386). Cambridge University Press. https://doi.org/10.1017/CBO9781139030854.187

Aicardi–Goutières syndrome. / Rossi, Andrea.

Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. p. 385-386.

Research output: Chapter in Book/Report/Conference proceedingChapter

Rossi, A 2010, Aicardi–Goutières syndrome. in Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, pp. 385-386. https://doi.org/10.1017/CBO9781139030854.187
Rossi A. Aicardi–Goutières syndrome. In Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press. 2010. p. 385-386 https://doi.org/10.1017/CBO9781139030854.187
Rossi, Andrea. / Aicardi–Goutières syndrome. Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. pp. 385-386
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