Lafora Body Disease: A Rare Type of Progressive Myoclonic Epilepsy

Md Enayet Hussain^1, , Afjal Momin¹, Mahmudul Islam¹, S R Haque¹, Mohammad Akter Hossain¹, Rajib Nayan Chowdhury¹ and Md Azharul Hoque¹

¹National Institute of Neurosciences (NINS), Agargaon, Dhaka, Bangladesh

Cite this paper

Md Enayet Hussain, Afjal Momin, Mahmudul Islam, S R Haque, Mohammad Akter Hossain, Rajib Nayan Chowdhury and Md Azharul Hoque. Lafora Body Disease: A Rare Type of Progressive Myoclonic Epilepsy. American Journal of Medical Case Reports. 2016; 4(3):80-82. doi: 10.12691/AJMCR-4-3-2

Abstract

Lafora body disease is one of the inherited progressive myoclonic epilepsy (PME) syndromes. It is an autosomal-recessive disorder with onset in late childhood or early adolescence. The disease is characterized by fragmentary, symmetric, or generalized myoclonic and/or generalized tonic-clonic seizures, visual hallucinations (occipital seizures), and progressive neurologic degeneration including cognitive and/or behavioral deterioration, dysarthria, and ataxia. The frequency and intractability of seizures increase over time. Status epilepticus is common. Emotional disturbance and confusion are common at or soon after onset of seizures and are followed by dementia. Dysarthria and ataxia appear early, spasticity late. Pathologically polyglucosan inclusion bodies (Lafora body) are seen which are pathognomonic of the disease and are not seen in any other types of PMEs. Electroencephalogram (EEG) reveals slowing of background and generalized spike/polyspike-and-waves and photosensitivity. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.

Keywords

Lafora Body, progressive myoclonic epilepsy

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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