Gangliosidosis GM2

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Specific Imaging Findings. Imaging findings in Tay–Sachs (Infantile GM2 Gangliosidosis Type B) and Sandhoff diseases (Infantile GM2 Gangliosidosis Type O) are quite similar. The lesion pattern in a macrocephalic infant is highly suggestive and includes symmetrical hyperdensities within the thalami and/or basal ganglia on brain CT. The thalami are typically hyperintense on T1-weighted images and hypointense on T2-weighted images. In Tay–Sachs disease the posterior part of the thalami may be T2 hyperintense. The putamina, caudate nuclei and globi pallidi are swollen and hyperintense on T2-weighted images. Widespread white matter changes within the cerebral hemispheres are also noted with sparing of corpus callosum, anterior commissure, and posterior limbs of the internal capsules. Brain atrophy appears in the final stages of the disease. Diffusion imaging is usually unremarkable. Brain MRS shows decline in the NAA, increased choline and progressive elevation of myo-inositol. In juvenile and adult GM2 gangliosidosis, there is cerebral and cerebellar atrophy, generally in combination with slight white matter signal changes. A decrease in T2 signal intensity of the thalami is also found in a number of other diseases caused by genetic mutations and it seems to be a sign of lysosomal disease.

Original languageEnglish
Title of host publicationBrain Imaging with MRI and CT: An Image Pattern Approach
PublisherCambridge University Press
Pages19-20
Number of pages2
ISBN (Print)9781139030854, 9780521119443
DOIs
Publication statusPublished - Jan 1 2010

Fingerprint

GM2 Gangliosidosis
Thalamus
Atrophy
Brain
Internal Capsule
Inborn Genetic Diseases
Globus Pallidus
Corpus Callosum
Caudate Nucleus
Cerebrum
Inositol
Choline
Basal Ganglia
Extremities
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Severino, M. (2010). Gangliosidosis GM2. In Brain Imaging with MRI and CT: An Image Pattern Approach (pp. 19-20). Cambridge University Press. https://doi.org/10.1017/CBO9781139030854.010

Gangliosidosis GM2. / Severino, Mariasavina.

Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. p. 19-20.

Research output: Chapter in Book/Report/Conference proceedingChapter

Severino, M 2010, Gangliosidosis GM2. in Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, pp. 19-20. https://doi.org/10.1017/CBO9781139030854.010
Severino M. Gangliosidosis GM2. In Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press. 2010. p. 19-20 https://doi.org/10.1017/CBO9781139030854.010
Severino, Mariasavina. / Gangliosidosis GM2. Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. pp. 19-20
@inbook{2a201576f3ff42c1b70d32c09decba82,
title = "Gangliosidosis GM2",
abstract = "Specific Imaging Findings. Imaging findings in Tay–Sachs (Infantile GM2 Gangliosidosis Type B) and Sandhoff diseases (Infantile GM2 Gangliosidosis Type O) are quite similar. The lesion pattern in a macrocephalic infant is highly suggestive and includes symmetrical hyperdensities within the thalami and/or basal ganglia on brain CT. The thalami are typically hyperintense on T1-weighted images and hypointense on T2-weighted images. In Tay–Sachs disease the posterior part of the thalami may be T2 hyperintense. The putamina, caudate nuclei and globi pallidi are swollen and hyperintense on T2-weighted images. Widespread white matter changes within the cerebral hemispheres are also noted with sparing of corpus callosum, anterior commissure, and posterior limbs of the internal capsules. Brain atrophy appears in the final stages of the disease. Diffusion imaging is usually unremarkable. Brain MRS shows decline in the NAA, increased choline and progressive elevation of myo-inositol. In juvenile and adult GM2 gangliosidosis, there is cerebral and cerebellar atrophy, generally in combination with slight white matter signal changes. A decrease in T2 signal intensity of the thalami is also found in a number of other diseases caused by genetic mutations and it seems to be a sign of lysosomal disease.",
author = "Mariasavina Severino",
year = "2010",
month = "1",
day = "1",
doi = "10.1017/CBO9781139030854.010",
language = "English",
isbn = "9781139030854",
pages = "19--20",
booktitle = "Brain Imaging with MRI and CT: An Image Pattern Approach",
publisher = "Cambridge University Press",

}

TY - CHAP

T1 - Gangliosidosis GM2

AU - Severino, Mariasavina

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Specific Imaging Findings. Imaging findings in Tay–Sachs (Infantile GM2 Gangliosidosis Type B) and Sandhoff diseases (Infantile GM2 Gangliosidosis Type O) are quite similar. The lesion pattern in a macrocephalic infant is highly suggestive and includes symmetrical hyperdensities within the thalami and/or basal ganglia on brain CT. The thalami are typically hyperintense on T1-weighted images and hypointense on T2-weighted images. In Tay–Sachs disease the posterior part of the thalami may be T2 hyperintense. The putamina, caudate nuclei and globi pallidi are swollen and hyperintense on T2-weighted images. Widespread white matter changes within the cerebral hemispheres are also noted with sparing of corpus callosum, anterior commissure, and posterior limbs of the internal capsules. Brain atrophy appears in the final stages of the disease. Diffusion imaging is usually unremarkable. Brain MRS shows decline in the NAA, increased choline and progressive elevation of myo-inositol. In juvenile and adult GM2 gangliosidosis, there is cerebral and cerebellar atrophy, generally in combination with slight white matter signal changes. A decrease in T2 signal intensity of the thalami is also found in a number of other diseases caused by genetic mutations and it seems to be a sign of lysosomal disease.

AB - Specific Imaging Findings. Imaging findings in Tay–Sachs (Infantile GM2 Gangliosidosis Type B) and Sandhoff diseases (Infantile GM2 Gangliosidosis Type O) are quite similar. The lesion pattern in a macrocephalic infant is highly suggestive and includes symmetrical hyperdensities within the thalami and/or basal ganglia on brain CT. The thalami are typically hyperintense on T1-weighted images and hypointense on T2-weighted images. In Tay–Sachs disease the posterior part of the thalami may be T2 hyperintense. The putamina, caudate nuclei and globi pallidi are swollen and hyperintense on T2-weighted images. Widespread white matter changes within the cerebral hemispheres are also noted with sparing of corpus callosum, anterior commissure, and posterior limbs of the internal capsules. Brain atrophy appears in the final stages of the disease. Diffusion imaging is usually unremarkable. Brain MRS shows decline in the NAA, increased choline and progressive elevation of myo-inositol. In juvenile and adult GM2 gangliosidosis, there is cerebral and cerebellar atrophy, generally in combination with slight white matter signal changes. A decrease in T2 signal intensity of the thalami is also found in a number of other diseases caused by genetic mutations and it seems to be a sign of lysosomal disease.

UR - http://www.scopus.com/inward/record.url?scp=84924661248&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84924661248&partnerID=8YFLogxK

U2 - 10.1017/CBO9781139030854.010

DO - 10.1017/CBO9781139030854.010

M3 - Chapter

AN - SCOPUS:84924661248

SN - 9781139030854

SN - 9780521119443

SP - 19

EP - 20

BT - Brain Imaging with MRI and CT: An Image Pattern Approach

PB - Cambridge University Press

ER -