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Clinics and Practice
Volume 2
Issue 4
10.4081/cp.2012.e81
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Optic Nerve Enlargement in Infantile Form of Krabbe Disease

by
Dimas Castilha-Neto
1,*,
Letícia Fernandes Monteiro
1,
Mirella Maccarini Peruchi
2,
João Moreno Filho
3,
Aline Vieira Scarlatelli-Lima
1 and
Jaime Lin
1
1
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Brazil
2
Department of Radiology, Hospital São João Batista, Brazil
3
Department of Radiology, Hospital Nossa Senhora da Conceição, Brazil
*
Author to whom correspondence should be addressed.
Clin. Pract. 2012, 2(4), e81; https://doi.org/10.4081/cp.2012.e81
Submission received: 19 June 2012 / Revised: 25 August 2012 / Accepted: 30 August 2012 / Published: 16 October 2012

Abstract

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.
Keywords: Krabbe disease; globoid cell leukodystrophy; optic nerve enlargement; galactosylceramidase; storage disorder Krabbe disease; globoid cell leukodystrophy; optic nerve enlargement; galactosylceramidase; storage disorder

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MDPI and ACS Style

Castilha-Neto, D.; Fernandes Monteiro, L.; Maccarini Peruchi, M.; Moreno Filho, J.; Scarlatelli-Lima, A.V.; Lin, J. Optic Nerve Enlargement in Infantile Form of Krabbe Disease. Clin. Pract. 2012, 2, e81. https://doi.org/10.4081/cp.2012.e81

AMA Style

Castilha-Neto D, Fernandes Monteiro L, Maccarini Peruchi M, Moreno Filho J, Scarlatelli-Lima AV, Lin J. Optic Nerve Enlargement in Infantile Form of Krabbe Disease. Clinics and Practice. 2012; 2(4):e81. https://doi.org/10.4081/cp.2012.e81

Chicago/Turabian Style

Castilha-Neto, Dimas, Letícia Fernandes Monteiro, Mirella Maccarini Peruchi, João Moreno Filho, Aline Vieira Scarlatelli-Lima, and Jaime Lin. 2012. "Optic Nerve Enlargement in Infantile Form of Krabbe Disease" Clinics and Practice 2, no. 4: e81. https://doi.org/10.4081/cp.2012.e81

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