A Case Report of Sandhoff Disease

Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epil...

Descripción completa

Detalles Bibliográficos
Autores principales: Saouab, R., Mahi, M., Abilkacem, R., Boumdin, H., Chaouir, S., Agader, O., Amil, T., Hanine, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145082/
https://www.ncbi.nlm.nih.gov/pubmed/21153386
http://dx.doi.org/10.1007/s00062-010-0035-4
_version_ 1782209069051805696
author Saouab, R.
Mahi, M.
Abilkacem, R.
Boumdin, H.
Chaouir, S.
Agader, O.
Amil, T.
Hanine, A.
author_facet Saouab, R.
Mahi, M.
Abilkacem, R.
Boumdin, H.
Chaouir, S.
Agader, O.
Amil, T.
Hanine, A.
author_sort Saouab, R.
collection PubMed
description Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented. Cerebral CT scan showed bilateral and symmetrical thalamic hyperdensity. MRI revealed that the thalamus was hyperintense on T(1)-weighted images and hypointense on T2-weighted images with a hypersignal T2 of the white matter. Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.
format Online
Article
Text
id pubmed-3145082
institution National Center for Biotechnology Information
language English
publishDate 2010
publisher Springer-Verlag
record_format MEDLINE/PubMed
spelling pubmed-31450822011-09-21 A Case Report of Sandhoff Disease Saouab, R. Mahi, M. Abilkacem, R. Boumdin, H. Chaouir, S. Agader, O. Amil, T. Hanine, A. Clin Neuroradiol Correspondence Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented. Cerebral CT scan showed bilateral and symmetrical thalamic hyperdensity. MRI revealed that the thalamus was hyperintense on T(1)-weighted images and hypointense on T2-weighted images with a hypersignal T2 of the white matter. Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease. Springer-Verlag 2010-12-10 2011 /pmc/articles/PMC3145082/ /pubmed/21153386 http://dx.doi.org/10.1007/s00062-010-0035-4 Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Correspondence
Saouab, R.
Mahi, M.
Abilkacem, R.
Boumdin, H.
Chaouir, S.
Agader, O.
Amil, T.
Hanine, A.
A Case Report of Sandhoff Disease
title A Case Report of Sandhoff Disease
title_full A Case Report of Sandhoff Disease
title_fullStr A Case Report of Sandhoff Disease
title_full_unstemmed A Case Report of Sandhoff Disease
title_short A Case Report of Sandhoff Disease
title_sort case report of sandhoff disease
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145082/
https://www.ncbi.nlm.nih.gov/pubmed/21153386
http://dx.doi.org/10.1007/s00062-010-0035-4
work_keys_str_mv AT saouabr acasereportofsandhoffdisease
AT mahim acasereportofsandhoffdisease
AT abilkacemr acasereportofsandhoffdisease
AT boumdinh acasereportofsandhoffdisease
AT chaouirs acasereportofsandhoffdisease
AT agadero acasereportofsandhoffdisease
AT amilt acasereportofsandhoffdisease
AT haninea acasereportofsandhoffdisease
AT saouabr casereportofsandhoffdisease
AT mahim casereportofsandhoffdisease
AT abilkacemr casereportofsandhoffdisease
AT boumdinh casereportofsandhoffdisease
AT chaouirs casereportofsandhoffdisease
AT agadero casereportofsandhoffdisease
AT amilt casereportofsandhoffdisease
AT haninea casereportofsandhoffdisease

Ejemplares similares