I型岩藻糖苷贮积症的脑部磁共振成像
MR brain imaging of fucosidosis type I.
作者信息
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A
机构信息
Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Senese, Italy.
出版信息
AJNR Am J Neuroradiol. 2001 Apr;22(4):777-80.
Abstract
Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.
摘要
岩藻糖苷贮积症是一种罕见的常染色体隐性溶酶体贮积病，主要临床特征为进行性神经运动功能退化、癫痫发作、面容粗糙、多发性骨发育异常、弥漫性躯体血管角质瘤、内脏肿大、反复呼吸道感染及生长发育迟缓。I型岩藻糖苷贮积症会迅速发展为进行性神经功能退化并导致死亡。我们报告了3例I型岩藻糖苷贮积症患者脑部的磁共振成像（MR）表现，包括此前未报告过的表现，以拓展对该疾病神经放射学谱的认识。
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