Hiyama Takashi, Masumoto Tomohiko, Hara Tadashi, Kunimatsu Akira, Mamada Naomi, Kiyotaka Nakamagoe, Manabu Minami
Department of Radiology, University of Tsukuba Hospital, Tsukuba, Japan.
Department of Radiology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.
BJR Case Rep. 2016 Jul 28;2(3):20150213. doi: 10.1259/bjrcr.20150213. eCollection 2016.
Adult-onset Krabbe disease is an autosomal recessive degenerative leukodystrophy that presents with bilateral corticospinal tract involvement on MRI. Although peripheral nerve involvement is a known manifestation of Krabbe disease, MRI findings of peripheral nerve abnormalities are limited to the cranial nerves and spinal nerve roots. In this case report, we discuss two cases of adult-onset Krabbe disease with brachial plexus enlargement on MRI. Adult-onset Krabbe disease should be included in the differential diagnoses when brachial plexus enlargement and white matter lesions involving corticospinal tracts present simultaneously.
成人起病的克拉伯病是一种常染色体隐性遗传性退行性白质营养不良症，磁共振成像（MRI）显示双侧皮质脊髓束受累。虽然周围神经受累是克拉伯病的已知表现，但MRI显示的周围神经异常仅限于脑神经和脊神经根。在本病例报告中，我们讨论了两例成人起病的克拉伯病患者，其MRI显示臂丛神经增粗。当同时出现臂丛神经增粗和累及皮质脊髓束的白质病变时，成人起病的克拉伯病应列入鉴别诊断。
