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Lafora body disease: a case of progressive myoclonic epilepsy
  1. Ranjot Kaur1,
  2. Neeraj Balaini2,
  3. Sudhir Sharma3 and
  4. Sudarshan Kumar Sharma4
  1. 1Medicine, Indira Gandhi Medical College, Shimla, India
  2. 2Neurology, PGIMER, Chandigarh, India
  3. 3Neurology, Indira Gandhi Medical College, Shimla, India
  4. 4Pathology, Indira Gandhi Medical College, Shimla, India
  1. Correspondence to Dr Neeraj Balaini; neerajbalaini{at}gmail.com

Abstract

Progressive myoclonic epilepsy (PME) is a progressive neurological disorder. Unfortunately, until now, no definitive curative treatment exists; however, it is of utmost importance to identify patients with PME. The underlying aetiology can be pinpointed if methodological clinical evaluation is performed, followed by subsequent genetic testing. We report a case of PME that was diagnosed as Lafora body disease. This case emphasises that, suspecting and identifying PME is important so as to start appropriate treatment and reduce the probability of morbidity and prognosticate the family.

  • epilepsy and seizures
  • memory disorders
  • drugs: CNS (not psychiatric)

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Footnotes

  • Contributors RK, SS and SKS were involved in patient care and collecting and analysing data. NB conceptualised and drafted the paper, and all authors reviewed it before submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer-reviewed.