Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104, USA.
Pediatr Radiol. 2010 Aug;40(8):1446-9. doi: 10.1007/s00247-010-1593-y. Epub 2010 Mar 25.
Fucosidosis is a rare lysosomal storage disorder that results in the deposition of the sugar fucose within various organs, including the central nervous system. Neuroimaging abnormalities on MR, specifically T2 shortening in the basal ganglia, have been reported as suggestive of fucosidosis. A more recent report of MR spectroscopy (MRS) of one patient provided evidence that MRS is specific for fucosidosis. We present another confirmed case with nearly identical MR spectroscopic findings along with in vitro data that support the contention that MR spectroscopy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder.
岩藻糖苷贮积症是一种罕见的溶酶体贮积症，导致糖岩藻糖在包括中枢神经系统在内的各种器官中沉积。磁共振成像（MR）上存在神经影像学异常，特别是基底节区的 T2 缩短，提示存在岩藻糖苷贮积症。最近有一份关于一名患者磁共振波谱（MRS）的报告提供了证据，表明 MRS 对岩藻糖苷贮积症具有特异性。我们呈现了另一个确诊病例，其 MRS 光谱学发现几乎完全相同，并提供了体外数据，支持了以下观点，即在典型的临床和影像学特征的情况下，磁共振波谱对这种罕见疾病具有特征性。
