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Table of Contents    
Year : 2018  |  Volume : 66  |  Issue : 4  |  Page : 1201-1202

Magnetic resonance imaging findings in Tay–Sachs disease

MRI Division, Dr. Gulati Imaging Institute, New Delhi, India

Date of Web Publication18-Jul-2018

Correspondence Address:
Dr. Parveen Gulati
MRI Division, Dr. Gulati Imaging Institute, Hauz Khas Enclave, New Delhi - 110 016
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.236955

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How to cite this article:
Gupta L, Mirza A, Gulati A, Gulati P. Magnetic resonance imaging findings in Tay–Sachs disease. Neurol India 2018;66:1201-2

How to cite this URL:
Gupta L, Mirza A, Gulati A, Gulati P. Magnetic resonance imaging findings in Tay–Sachs disease. Neurol India [serial online] 2018 [cited 2020 Aug 7];66:1201-2. Available from:

A 15-month old male child presented with progressive neurological deterioration in the form of delayed milestones and generalized hypotonia. The child had episodes of seizures with gradual visual impairment and difficulty in swallowing. His magnetic resonance imaging (MRI) showed a diffuse abnormal signal intensity (T2 weighted [W] hyperintensity and T1W hypointensity) involving bilateral cerebral white matter, suggestive of a myelination disorder [Figure 1]a and [Figure 1]b. Bilateral symmetrical thalamic signal alterations were seen in the form of T2W hypointensity and T1W hyperintensity [Figure 1]a and [Figure 1]b. Bilateral caudate nuclei and putamen were swollen and showed increased signal intensity on T2W and fluid attenuation inversion recovery (FLAIR) sequences. No diffusion restriction was seen [Figure 1]c. No blooming was seen on the fast field echo (FFE) images [Figure 1]d. On the basis of the clinical and MRI findings, GM2 gangliosidosis was kept as a possibility. The diagnosis of the Tay Sachs disease was confirmed by the molecular analysis that revealed the deficiency of hexosaminidase A enzymatic activity in the leukocytes.
Figure 1: Axial MRI T2W (a) and T1W (b) image shows symmetrical T2W hypointensity and T1W hyperintensity involving the bilateral thalami. Diffuse T2W hyperintense and T1W hypointense signal is involving the bilateral cerebral white matter suggestive of dysmyelination disorder. Bilateral caudate nucleus and putamen are swollen and hyperintense on T2W and FLAIR sequences. Axial Diffusion weighted image (c) shows no diffusion restriction. No blooming is seen in the FFE sequences (d)

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GM2 gangliosidosis is an autosomal recessive lysosomal disorder characterized by the deficiency of Hexosaminidase A and Hexosaminidase B enzymes. It leads to the accumulation of the GM2 ganglioside in the tissues, particularly in the neuronal cells. Tay–Sachs disease is caused by the deficiency of the Hexosaminidase A enzyme.[1] Hepatosplenomegaly is present in Sandhoff disease and absent in Tay–Sachs disease.[2] Imaging findings are identical in both the entities. Computed tomography (CT) scan shows bilateral hyperdense thalami with diffuse hypodensity involving bilateral cerebral white matter. MRI scan reveals symmetrical T2W hypointense and T1W hyperintense signals involving bilateral thalami.[3],[4] The signal and density alterations of the thalami on MRI/CT images are caused by abnormal deposition of the ganglioside and mineral, respectively. The ganglioside deposition leading to the abnormal myelination is seen in the form of diffuse abnormal T2W hyperintense and T1W hypointense signal intensity involving bilateral cerebral white matter. The combination of hyperdensity on CT images and the T2W hypointense/T1W hyperintense MRI signal involving bilateral thalami is quite suggestive of GM2 gangliosidosis. The final diagnosis of the Tay Sachs disease is established by biochemical tests, demonstrating Hexosaminidase A enzyme deficiency in the leukocytes and skin fibroblasts.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/he'r/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Beker-Acay M, Elmas M, Koken R, Unlu E, Bukulmez A. Infantile type Sandhoff disease with striking brain MRI findings and a novel mutation. Pol J Radiol 2016;81:86-9.  Back to cited text no. 1
Güngör O, Güngör G, Yurttutan N, Dilber C. Thalamic T2 hypointensity: A diagnostic clue for Tay-Sachs disease. Acta Neurol Belg 2016;116:195-7.  Back to cited text no. 2
De Grandis E, Di Rocco M, Pessagno A, Veneselli E, Rossi A. MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 2009;30:1325-7.  Back to cited text no. 3
Mittal P, Gupta R, Garg P, Mittal A, Kaur H, Gupta S. CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. Neurol India 2016;64:1372-3.  Back to cited text no. 4
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