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Case Reports
. 2020 Dec 22;13(12):e236971.
doi: 10.1136/bcr-2020-236971.

Lafora body disease: a case of progressive myoclonic epilepsy

Ranjot Kaur  1 , Neeraj Balaini  2 , Sudhir Sharma  3 , Sudarshan Kumar Sharma  4
Affiliations
Case Reports

Lafora body disease: a case of progressive myoclonic epilepsy

Ranjot Kaur et al. BMJ Case Rep. .

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.

Keywords: drugs: CNS (not psychiatric); epilepsy and seizures; memory disorders.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Axillary skin biopsy showed intracytoplasmic eosinophilic inclusions seen in eccrine glands and ducts suggestive of Lafora bodies.
See this image and copyright information in PMC

References

    1. Berkovic SF, Andermann F, Carpenter S, et al. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986;315:296–305. 10.1056/NEJM198607313150506 - DOI - PubMed
    1. Kälviäinen R. Progressive myoclonus epilepsies. Semin Neurol 2015;35:293–9. 10.1055/s-0035-1552620 - DOI - PubMed
    1. Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol 2015;15:164–71. 10.1136/practneurol-2014-000994 - DOI - PubMed
    1. Mink JW, Augustine EF, Adams HR, et al. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol 2013;28:1101–5. 10.1177/0883073813494268 - DOI - PMC - PubMed
    1. Crespel A, Ferlazzo E, Franceschetti S, et al. Unverricht-Lundborg disease. Epileptic Disord 2016;18:28–37. 10.1684/epd.2016.0841 - DOI - PubMed

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