Fagan Nathan, Alexander Alan, Irani Neville, Saade Charbel, Naffaa Lena
Department of Diagnostic Radiology, Aultman Hospital, Canton, Ohio, USA.
Department of Diagnostic Radiology, University of Kansas, Medical Center, Kansas City, Kansas, USA.
J Med Imaging Radiat Oncol. 2017 Jun;61(3):344-352. doi: 10.1111/1754-9485.12569. Epub 2016 Dec 25.
Lysosomal storage diseases (LSD) are a complex group of genetic disorders that are a result of inborn errors of metabolism. These errors result in a variety of metabolic dysfunction and build-up certain molecules within the tissues of the central nervous system (CNS). Although, they have discrete enzymatic deficiencies, symptomology and CNS imaging findings can overlap with each other, which can become challenging to radiologists. The purpose of this paper is to review the most common CNS imaging findings in LSD in order to familiarize the radiologist with their imaging findings and help narrow down the differential diagnosis.
溶酶体贮积症(LSD)是一组复杂的遗传性疾病,由先天性代谢缺陷引起。这些缺陷导致各种代谢功能障碍,并在中枢神经系统(CNS)组织内积聚某些分子。尽管它们有各自独立的酶缺乏症,但症状学和CNS影像学表现可能相互重叠,这对放射科医生来说可能具有挑战性。本文的目的是回顾LSD中最常见的CNS影像学表现,以使放射科医生熟悉其影像学表现,并有助于缩小鉴别诊断范围。