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White matter changes in GM1 gangliosidosis

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Abstract

Background

GM1 gangliosidosis is a disorder due to GLB1 gene mutation.

Case characteristics

A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.

Outcome

Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.

Message

We highlight the white matter changes in late infantile GM1 gangliosidosis.

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Author information

Authors and Affiliations

  1. Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226 014, Uttar Pradesh, India

    Moni Tuteja & Shubha R. Phadke

  2. Kasturba Medical College, Manipal University, Manipal, India

    Abdul Mueed Bidchol & Katta Mohan Girisha

Authors
  1. Moni Tuteja
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  2. Abdul Mueed Bidchol
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  3. Katta Mohan Girisha
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  4. Shubha R. Phadke
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Corresponding author

Correspondence to Shubha R. Phadke.

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Cite this article

Tuteja, M., Bidchol, A.M., Girisha, K.M. et al. White matter changes in GM1 gangliosidosis. Indian Pediatr 52, 155–156 (2015). https://doi.org/10.1007/s13312-015-0593-2

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  • DOI: https://doi.org/10.1007/s13312-015-0593-2

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