RT Journal Article
SR Electronic
T1 Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 57
OP 61
DO 10.17712/nsj.2018.1.20170328
VO 23
IS 1
A1 Murat Gultekin
A1 Ruslan Bayramov
A1 Cagatay Karaca
A1 Niyazi Acer
YR 2018
UL http://nsj.org.sa/content/23/1/57.abstract
AB Sialidosis is a rare lysosomal storage disease caused by neuraminidase gene (NEU1) mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to examine the sialidosis type 1 brain using volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and functional MRI in comparison to 3 controls. The patient’s gene analysis identified compound heterozygous mutation in the NEU1 that is shown to be associated with the sialidosis type 1. In this very rarely seen case, we found volume changes in different brain structures. We found that subthalamic nucleus volumes were found to be smaller in the patient compared to the controls. Also, sialidosis type 1 had significantly smaller cerebellar volume compared with the control group. The case had higher mean diffusivity and lower fractional anisotropy values in the cerebellum and displayed abnormal functional connectivity.