Optic nerve enlargement in infantile form of Krabbe disease

Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, t...

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Autores principales: Castilha-Neto, Dimas, Monteiro, Letícia Fernandes, Peruchi, Mirella Maccarini, Filho, João Moreno, Scarlatelli-Lima, Aline Vieira, Lin, Jaime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981200/
https://www.ncbi.nlm.nih.gov/pubmed/24765480
http://dx.doi.org/10.4081/cp.2012.e81
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author Castilha-Neto, Dimas
Monteiro, Letícia Fernandes
Peruchi, Mirella Maccarini
Filho, João Moreno
Scarlatelli-Lima, Aline Vieira
Lin, Jaime
author_facet Castilha-Neto, Dimas
Monteiro, Letícia Fernandes
Peruchi, Mirella Maccarini
Filho, João Moreno
Scarlatelli-Lima, Aline Vieira
Lin, Jaime
author_sort Castilha-Neto, Dimas
collection PubMed
description Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilaterally.
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spelling pubmed-39812002014-04-24 Optic nerve enlargement in infantile form of Krabbe disease Castilha-Neto, Dimas Monteiro, Letícia Fernandes Peruchi, Mirella Maccarini Filho, João Moreno Scarlatelli-Lima, Aline Vieira Lin, Jaime Clin Pract Case Report Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilaterally. PAGEPress Publications 2012-10-16 /pmc/articles/PMC3981200/ /pubmed/24765480 http://dx.doi.org/10.4081/cp.2012.e81 Text en ©Copyright D. Castilha-Neto et al., 2012 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0). Licensee PAGEPress, Italy
spellingShingle Case Report
Castilha-Neto, Dimas
Monteiro, Letícia Fernandes
Peruchi, Mirella Maccarini
Filho, João Moreno
Scarlatelli-Lima, Aline Vieira
Lin, Jaime
Optic nerve enlargement in infantile form of Krabbe disease
title Optic nerve enlargement in infantile form of Krabbe disease
title_full Optic nerve enlargement in infantile form of Krabbe disease
title_fullStr Optic nerve enlargement in infantile form of Krabbe disease
title_full_unstemmed Optic nerve enlargement in infantile form of Krabbe disease
title_short Optic nerve enlargement in infantile form of Krabbe disease
title_sort optic nerve enlargement in infantile form of krabbe disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981200/
https://www.ncbi.nlm.nih.gov/pubmed/24765480
http://dx.doi.org/10.4081/cp.2012.e81
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