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NEUROIMAGES
Year : 2016  |  Volume : 64  |  Issue : 6  |  Page : 1372-1373

CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease


1 Department of Radiodiagnosis, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, India
2 Department of Opthalmology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, India

Date of Web Publication11-Nov-2016

Correspondence Address:
Dr. Puneet Mittal
Department of Radiodiagnosis, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.193818

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How to cite this article:
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

How to cite this URL:
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 [serial online] 2016 [cited 2019 Nov 20];64:1372-3. Available from: http://www.neurologyindia.com/text.asp?2016/64/6/1372/193818


A 9-month-old male child, born of non-consanguineous parents, who was well for the first 6 months, presented with progressive deterioration of milestones. The birth history was normal. The parents reported a low grade fever and an episode of generalized tonic seizure 20 days prior to admission. On examination, the child was hypotonic with inability to hold his neck, and exaggerated startle response to sounds. Ophthalmological examination showed a cherry red spot in bilateral macular regions [Figure 1]. No organomegaly was seen on abdominal sonographic examination. The computed tomography (CT) scan revealed symmetrical hyperdensity in bilateral thalami and subtle hypodensity in bilateral basal ganglia [Figure 2]. Magnetic resonance imaging (MRI) showed symmetrical abnormal hyperintense signal on T2-weighted images in bilateral basal ganglia and cerebral white matter with normal signal in the corpus callosum. Symmetrical abnormal signal, appearing hypointense on T2-weighted and hyperintense on T1-weighted images, was also seen in bilateral thalami [Figure 3]. Based on the clinical and imaging findings, the possibility of GM2 gangliosidosis was considered. Serological examination revealed markedly reduced leukocyte hexosaminidase A activity, confirming the diagnosis of  Tay-Sachs disease More Details.
Figure 1: Fundus examination image showing cherry red spot in the macular region with surrounding white retina

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Figure 2: Axial non-contrast computed tomography image showing bilateral thalami hyperdensity and subtle bilateral basal ganglia hypodensity

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Figure 3: Axial T1-weighted (a) and T2-weighted (b) MR images showing T1/T2-weighted shortening in bilateral thalami with T2-weighted hyperintense signal in bilateral basal ganglia and cerebral white matter with relative sparing of corpus callosum

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GM2 gangliosidoses are a group of autosomal recessively inherited lysosomal disorders characterized by deficient formation/function of a specific enzyme, which results in an inability to breakdown GM2 ganglioside. This results in its accumulation in various tissues, a phenomenon most pronounced in the neurons.[1] Its two major subtypes are Tay-Sach's disease (due to hexosaminidase A deficiency) and Sandhoff disease (due to hexosaminidase B deficiency). Both these conditions present with similar imaging findings except for hepatosplenomegaly, which is seen in Sandhoff disease.[2] Imaging findings in GM1 and GM2 gangliosidosis are also similar. Bilateral thalamic hyperdensity are seen in all varieties of gangliosidoses, which are thought to be secondary to intracellular accumulation of ganglioside or mineral deposition, with relatively decreased water content. MRI findings of T2-weighted hypointensity and T1-weighted hyperintensity are also thought to have the same basis.[3],[4] Other causes of bilateral thalamic CT hyperdensity and T2-weighted hypointensity on MRI are Krabbe's disease and neuronal ceroid lipofuscinosis.[2] The basis of basal ganglia and cerebral white matter hyperintensities is axonal degeneration due to ganglioside accumulation with secondary gliosis and increased water content.[5] The relative sparing of corpus callosum, as seen in our case, has been reported in literature.[3] In conclusion, imaging findings of thalamic CT hyperdensity and T1/T2-weighted shortening with increased T2-weighted MR signal in bilateral basal ganglia are fairly specific for gangliosidoses.

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  References Top

1.
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
    
2.
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
    
3.
Yang E, Prabhu SP. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am 2014;52:279-319.  Back to cited text no. 3
    
4.
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. 4
    
5.
Yoshikawa H, Yamada K, Sakuragawa N. MRI in the early stage of Tay-Sachs disease. Neuroradiology 1992;34:394-5  Back to cited text no. 5
    


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