婴儿型克拉伯病中的视神经增大
Optic nerve enlargement in infantile form of Krabbe disease.
作者信息
Castilha-Neto Dimas, Monteiro Letícia Fernandes, Peruchi Mirella Maccarini, Filho João Moreno, Scarlatelli-Lima Aline Vieira, Lin Jaime
机构信息
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL);
Department of Radiology, Hospital São João Batista;
出版信息
Clin Pract. 2012 Oct 16;2(4):e81. doi: 10.4081/cp.2012.e81. eCollection 2012 Oct 12.
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.
克拉伯病（KD）是一种常染色体隐性溶酶体贮积症，由半乳糖神经酰胺酶活性功能失调引起。婴儿型是最常见的亚型，发病年龄约为6个月。我们报告了一例罕见的婴儿型KD病例，磁共振成像显示白质、丘脑和基底神经节病变，双侧视神经肿大的情况很少见。
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