早发性克拉伯病的正常神经影像学表现。

Normal neuroimaging in early-onset Krabbe disease.

机构信息

Department of Pediatrics (Pediatric Neurology Division), K. L. E. University's J. N. Medical College, Belgaum, Karnataka State, India.

出版信息

Pediatr Neurol. 2011 May;44(5):374-6. doi: 10.1016/j.pediatrneurol.2010.12.008.

DOI:10.1016/j.pediatrneurol.2010.12.008

PMID:21481747

Abstract

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age of clinical onset. MRI-negative Krabbe disease has not been reported in early-onset cases. We present the serial clinical and MRI of brain findings in a case of early-onset Krabbe disease with proven enzyme deficiency. Despite clinical progression, the MRI findings of the child remained normal over a period of 15 months.

摘要

克拉伯病根据发病年龄在脑部磁共振成像（MRI）上具有特征性表现。在早发型病例中，尚未有报道称存在 MRI 阴性的克拉伯病。我们报告了一例经酶学证实的早发型克拉伯病的连续临床和脑部 MRI 表现。尽管患儿的临床病情在进展，但在 15 个月的时间里，其 MRI 表现仍保持正常。