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Case ReportCase Report
Open Access

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features

Murat Gultekin, Ruslan Bayramov, Cagatay Karaca and Niyazi Acer
Neurosciences Journal January 2018, 23 (1) 57-61; DOI: https://doi.org/10.17712/nsj.2018.1.20170328
Murat Gultekin
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
MD
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  • For correspondence: [email protected]
Ruslan Bayramov
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
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Cagatay Karaca
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
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Niyazi Acer
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
PhD
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    Figure 1

    Handling timeline of 24-years-old male, presented to our clinic with 6 years history of progressive gait ataxia and jerky movements.

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    Figure 2

    Color fundus photography image showing ‘cherry red spot’ appearance due to whitening of the retina in the perifoveal area A) Right eye, B) Left eye

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    Figure 3

    Neuroimaging results A) The patient’s brain MRI figures (white arrows show atrophy) with axial T1, T2, FLAIR and midsagittal T1. B) The patient’s brain DTI data.

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    Figure 4

    Fractional anisotropy (FA) values for the case and the control subjects.

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    Figure 5

    Mean diffusivity (MD) values for the case and the control subjects (mm2/s).

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    Table 1

    The volumes (cm3) of the selected brain structures.

    Brain structuresCaseControl 1 (cm3)Control 2 (cm3)Control 3 (cm3)Control Mean (cm3)
    Cerebellum-right85.197.784.189.990.5±6.82
    Cerebellum-left84.090.386.589.388.7±1.96
    PrCG_R38.630.347.741.439.8±8.80
    PrCG_L34.628.134.933.332.1±3.55
    PoCG_R23.625.429.834.729.9±0.05
    PoCG_L27.327.832.133.631.1±3.01
    STN_R0.450.570.760.530.62±0.12
    STN-L0.470.410.530.520.48±0.06
    Total brain volume1651.501658.1621822.221775.901752.09±84.58
    • PrCG_R - Precentral gyrus_right, PrCG_L - precentral gyrus_left, PoCG_R - postcentral gyrus_right, PoCG_left - postcentral gyrus_left, STN_R - subthalamic nucleus_right, STN_L -subthalamic nucleus_left

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Neurosciences Journal: 23 (1)
Neurosciences Journal
Vol. 23, Issue 1
1 Jan 2018
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Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
Murat Gultekin, Ruslan Bayramov, Cagatay Karaca, Niyazi Acer
Neurosciences Journal Jan 2018, 23 (1) 57-61; DOI: 10.17712/nsj.2018.1.20170328

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Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
Murat Gultekin, Ruslan Bayramov, Cagatay Karaca, Niyazi Acer
Neurosciences Journal Jan 2018, 23 (1) 57-61; DOI: 10.17712/nsj.2018.1.20170328
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