title: White matter changes in GM1 gangliosidosis.
abstract: BACKGROUND
  GM1 gangliosidosis is a disorder due to GLB1 gene mutation.
  
  
  METHODS
  A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.
  
  
  RESULTS
  Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.
  
  
  CONCLUSIONS
  We highlight the white matter changes in late infantile GM1 gangliosidosis.
authors.affiliation: Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014. shubharaophadke@gmail.com.
authors.forename: Moni
authors.initials: M
authors.lastname: Tuteja
authors.forename: Abdul Mueed
authors.initials: AM
authors.lastname: Bidchol
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.forename: Shubha
authors.initials: S
authors.lastname: Phadke
mesh_terms: D002675:Child, Preschool; D016537:Gangliosidosis, GM1 / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D066127:White Matter / Q000473:pathology*