A misleading presentation of juvenile Tay Sachs disease

Rev Neurol (Paris). 2020 Mar;176(3):213-214. doi: 10.1016/j.neurol.2019.06.011. Epub 2019 Sep 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Female
  • Hexosaminidase A / genetics
  • Humans
  • Male
  • Morocco
  • Siblings
  • Tay-Sachs Disease / diagnosis*
  • Tay-Sachs Disease / genetics

Substances

  • Hexosaminidase A

Supplementary concepts

  • Tay-Sachs Disease, Juvenile