A case of late-onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions

被引：2

作者：

Mitsutake, Akihiko ^{[1
]}

Matsukawa, Takashi ^{[1
]}

Ishiura, Hiroyuki ^{[1
]}

Mitsui, Jun ^{[1
]}

Taira, Kenichiro ^{[1
]}

Tokushige, Shin-ichi ^{[1
]}

Iwata, Atsushi ^{[1
]}

Terao, Yasuo ^{[1
]}

Shimizu, Jun ^{[1
]}

Sakai, Norio ^{[2
]}

Tsuji, Shoji ^{[1
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

[2] Osaka Univ, Grad Sch Med, Dept Pediat, Osaka, Japan

来源：

NEUROLOGY AND CLINICAL NEUROSCIENCE | 2018年 / 6卷 / 04期

关键词：

galactocerebrosidase; GALC; late-onset Krabbe disease; spinal cord lesion;

D O I：

10.1111/ncn3.12188

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a 16-year-old boy with the late-onset form of Krabbe disease. The patient had been free of neuromuscular diseases until he showed subacute progression of spastic paraparesis at age 15. There was no evident peripheral neuropathy. Magnetic resonance imaging (MRI) of the brain and the spinal cord showed T2-weighted high-intensity lesions along the bilateral pyramidal tract from the internal capsule to the lumbar cord. Bilateral pyramidal tract involvement raised the possibility of late-onset Krabbe disease. A markedly reduced galactocerebrosidase activity and a homozygous known pathogenic mutation in the GALC gene confirmed the diagnosis. This case was unique in that the progression was subacute and the lesions from the cervical to the lumbar cord were clearly shown by MRI.

引用

页码：104 / 106

页数：3

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