Case Report

Lafora Disease: A Case Report of Progressive Myoclonic Epilepsy

A case report of progressive myoclonic epilepsy

Abstract

Lafora disease is a rare genetic disease caused by the accumulation of malformed glycogen products in the tissues. The disease usually manifests with idiopathic generalized tonic colonic seizures with poor response to antiepileptic drugs (AEDs). We report the case of a 19-year-old girl with the chief complaint of generalized refractory seizures, jerky movement, and cognitive deterioration with a positive history of epilepsy in her younger brother. The disease onset was at the age of 16 with jerky movement and blurred vision. She was admitted to our ward to have a long-term video EEG monitoring for further evaluation. Clinical presentation accompanied with abnormal EEG characteristics for Lafora disease, and the positive familial history were highly suggestive of Lafora disease. The disease was confirmed with genetic testing by which the mutation of EPM2A was detected.

1. Ianzano Leonarda., Zhang J., Chan EM., Zhao XC., Lohi H., Scherer SW., et al., HUMAN MUTATION Database in Brief #847 (2005) Online Lafora Progressive Myoclonus Epilepsy Mutation Database-EPM2A and NHLRC1 (EMP2B) Genes, Wiley Online Libr., 26(4):397, 2005. https://doi.org/10.1002/humu.9376.
2. Matthew S. Gentry, Joan J. Guinovart, Berge A. Minassian, Pe- ter J. Roach, Jose M. Serratosa, Lafora disease offers a unique window into neuronal glycogen metabolism, Elsevier, https:// doi.org/10.1074/jbc.R117.803064.
3. Lynch DS., Wood NW, Houlden H., Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A, AAN Enterp., 2016, 16;2(5):e101. https://doi.org/10.1212/ nxg.0000000000000101
4. Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA et al., Lafora disease, Epileptic Disorders. 2016, 1;18(S2):38- 62. doi: 10.1684/epd.2016.0842.
5. Minassian B., Ianzano L., Meloche M., E. A.- Neurology, and undefined 2000, Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsy, AAN Enterp., https://n.neurology.org/content/55/3/341
6. Nitschke, F., Ahonen, S.J., Nitschke, S. et al. Lafora disease — from pathogenesis to treatment strategies. Nat Rev Neurol 14, 606–617 (2018). https://doi.org/10.1038/s41582-018-0057-0.
7. Ibrahim F., Murr N. Lafora disease, ncbi.nlm.nih.gov, Accessed: Jun. 08, 2021. [Online]. Available: https://www.ncbi.nlm.nih. gov/books/NBK482229/
8. Harirchian M H, Shandiz E E, Turnbull J, Minassian B A, Shahsiah R. Lafora disease: A case report, pathologic and genetic study. Indian J Pathol Microbiol 2011;54:374-5. Link.
9. Israelian L, Wang P, Gabrielian S, Zhao X, Minassian BA. Keto- genic diet reduces Lafora bodies in murine Lafora disease. Neu- rol Genet. 2020 Nov 19;6(6):e533. https://doi.org/10.1212/ nxg.0000000000000533.
10. Grant L. Austin, Zoe R. Simmons, Jack E. Klier, Alberto Ron- don, Brad L. Hodges, Robert Shaffer, et al., Central Nervous Sys- tem Delivery and Biodistribution Analysis of an Antibody-En- zyme Fusion for the Treatment of Lafora Disease, Mol. Pharm., 16(9):3791–3801. https://doi.org/10.1021/acs.molpharma- ceut.9b00396.
Files
IssueVol 7 No 4 (2022): July-August QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/crcp.v7i4.11595
Keywords
Lafora disease Progressive myoclonic epilepsy PME

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How to Cite
1.
Delavari S, Olamazadeh S, Ameli N, Pourghaz B, Tafakhori A. Lafora Disease: A Case Report of Progressive Myoclonic Epilepsy. CRCP. 2023;7(4):187-189.