White matter changes in GM1 gangliosidosis

Moni Tuteja, Abdul Mueed Bidchol, Katta Mohan Girisha, Shubha R. Phadke

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)155-156
Number of pages2
JournalIndian Pediatrics
Volume52
Issue number2
DOIs
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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