Epileptic Disorders

, Volume 14, Issue 1, pp 94–98 | Cite as

Presentation of an unusual patient with Lafora disease

  • Selim Gökdemir
  • Hande Çağlayan
  • Meral Kızıltan
  • Naci Karaağaç
  • Cem Leblebici
  • S. Naz Yeni
Clinical Commentary
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Abstract

Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic-clonic seizures at the age of 30 is discussed. Until the age of 48, the patient did not have myoclonic jerks or ataxia clinically, but had well controlled seizures. He developed dementia and late extrapyramidal signs. Axillary skin biopsy revealed typical Lafora inclusion bodies. Genetic analysis showed a mutation in the EMP2B gene. To our knowledge, this is the first description of a patient suffering from a Lafora disease without disabling myoclonus and ataxia but rather rare seizures, extrapyramidal signs, and dementia.

Key words

late onset dementia extrapyramidal signs epilepsy disabling myoclonus 

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Copyright information

© John Libbey Eurotext and Springer 2012

Authors and Affiliations

  • Selim Gökdemir
    • 1
    • 4
  • Hande Çağlayan
    • 2
  • Meral Kızıltan
    • 1
  • Naci Karaağaç
    • 1
  • Cem Leblebici
    • 3
  • S. Naz Yeni
    • 1
  1. 1.Division of NeurologyIstanbul University Cerrahpaşa Medical FacultyIstanbulTurkey
  2. 2.Division of Genetics and Molecular BiologyBoğaziçi UniversityBoğaziçiTurkey
  3. 3.Division of PathologySamatya Educational and Research HospitalIstanbulTurkey
  4. 4.Cerrahpasşa Medical Faculty Neurology DepartmentIstanbul UniversityCerrahpaşa, IstanbulTurkey

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