Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review

Abstract

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.

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

“…This is likely a consequence of very slow and individually variable disease progression as well as of differences in the Interestingly, the involvement of the cerebellum is common in lysosomal storage disorders. The pathophysiology of the primary cerebellar degeneration affecting many lysosomal storage disorders can likely be explained by the increased vulnerability of Purkinje cells triggered by accumulation of metabolic substrates [28]. Cerebellar atrophy as the neuroimaging hallmark has been reported in neuronal ceroid lipofuscinosis-especially the late onset and juvenile forms, Niemann-Pick disease type C, Gaucher disease, and Sandhoff disease [27,28].…”

“…The pathophysiology of the primary cerebellar degeneration affecting many lysosomal storage disorders can likely be explained by the increased vulnerability of Purkinje cells triggered by accumulation of metabolic substrates [28]. Cerebellar atrophy as the neuroimaging hallmark has been reported in neuronal ceroid lipofuscinosis-especially the late onset and juvenile forms, Niemann-Pick disease type C, Gaucher disease, and Sandhoff disease [27,28]. Neuroimaging findings often overlap.…”

“…In patients with neuronal ceroid lipofuscinosis, other typical findings include cerebral atrophy, T2 hypointensity and T1 hyperintensity in the thalami and periventricular white matter abnormalities [29,30]. Cerebellar atrophy is accompanied by cerebral atrophy, thinning of the corpus callosum, and increased signal in the periventricular white matter in Niemann-Pick disease type C [26] and by dural thickening in Gaucher disease [28,31]. Cerebellar atrophy as a secondary finding can accompany other disorders like metachromatic leukodystrophy [28], or alpha-mannosidosis [32].…”

“…Cerebellar atrophy is accompanied by cerebral atrophy, thinning of the corpus callosum, and increased signal in the periventricular white matter in Niemann-Pick disease type C [26] and by dural thickening in Gaucher disease [28,31]. Cerebellar atrophy as a secondary finding can accompany other disorders like metachromatic leukodystrophy [28], or alpha-mannosidosis [32].…”

Detection of Aspartylglucosaminuria Patients from Magnetic Resonance Images by a Machine-Learning-Based Approach

“…Similar MRI findings have also been reported in other lysosomal storage diseases. In more than 40 classified lysosomal storage diseases, some degree of decreased T2 signal has been reported [ 9 ]. The signal changes are thought to be caused by excessive metabolite accumulation that increases the viscosity, leading to T1 and T2 shortening [ 9 ].…”