Book contents
- Frontmatter
- Contents
- List of contributors
- List of abbreviations
- Preface
- Section 1 Bilateral Predominantly Symmetric Abnormalities
- Section 2 Sellar, Perisellar and Midline Lesions
- Section 3 Parenchymal Defects or Abnormal Volume
- Section 4 Abnormalities Without Significant Mass Effect
- Section 5 Primarily Extra-Axial Focal Space-Occupying Lesions
- Section 6 Primarily Intra-Axial Masses
- Section 7 Intracranial Calcifications
- 184 Congenital Cytomegalovirus Infection
- 185 Congenital Toxoplasmosis
- 186 Aicardi–Goutieres Syndrome
- 187 Physiologic Basal Ganglia Calcifications
- 188 Hyperparathyroidism
- 189 Meningioangiomatosis
- 190 Vascular Wall Calcification
- 191 Dystrophic Calcifications
- 192 Calcified Aneurysms
- 193 Vascular Malformations
- 194 Cysticercosis
- 195 Calcified Metastases
- 196 Ganglioglioma
- 197 Oligodendroglioma
- 198 Cortical Tubers in Tuberous Sclerosis
- 199 Subependymal Nodules in Tuberous Sclerosis
- 200 Ependymoma
- 201 Lipoma With Calcification
- 202 Craniopharyngioma
- 203 Meningioma
- 204 Teflon Granuloma
- Index
- References
186 - Aicardi–Goutieres Syndrome
from Section 7 - Intracranial Calcifications
Published online by Cambridge University Press: 05 August 2013
- Frontmatter
- Contents
- List of contributors
- List of abbreviations
- Preface
- Section 1 Bilateral Predominantly Symmetric Abnormalities
- Section 2 Sellar, Perisellar and Midline Lesions
- Section 3 Parenchymal Defects or Abnormal Volume
- Section 4 Abnormalities Without Significant Mass Effect
- Section 5 Primarily Extra-Axial Focal Space-Occupying Lesions
- Section 6 Primarily Intra-Axial Masses
- Section 7 Intracranial Calcifications
- 184 Congenital Cytomegalovirus Infection
- 185 Congenital Toxoplasmosis
- 186 Aicardi–Goutieres Syndrome
- 187 Physiologic Basal Ganglia Calcifications
- 188 Hyperparathyroidism
- 189 Meningioangiomatosis
- 190 Vascular Wall Calcification
- 191 Dystrophic Calcifications
- 192 Calcified Aneurysms
- 193 Vascular Malformations
- 194 Cysticercosis
- 195 Calcified Metastases
- 196 Ganglioglioma
- 197 Oligodendroglioma
- 198 Cortical Tubers in Tuberous Sclerosis
- 199 Subependymal Nodules in Tuberous Sclerosis
- 200 Ependymoma
- 201 Lipoma With Calcification
- 202 Craniopharyngioma
- 203 Meningioma
- 204 Teflon Granuloma
- Index
- References
Summary
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.
- Type
- Chapter
- Information
- Brain Imaging with MRI and CTAn Image Pattern Approach, pp. 385 - 386Publisher: Cambridge University PressPrint publication year: 2012