American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
Open Access
Journal Browser
American Journal of Medical Case Reports. 2016, 4(3), 80-82
DOI: 10.12691/ajmcr-4-3-2
Open AccessCase Report

Lafora Body Disease: A Rare Type of Progressive Myoclonic Epilepsy

Md Enayet Hussain1, , 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

Pub. Date: March 24, 2016

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


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.

Lafora Body progressive myoclonic epilepsy

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit


Figure of 2


[1]  Baykal BB, Özemir ZA. Progresif miyoklonik epilepsiler. ‹çinde: ‹brahim Bora, Naz Yeni, Candan Gürses, (yazarlar). Epilepsi. ‹stanbul: Nobel t›p kitabevleri, 2008: 271-90.
[2]  Panayiotopoulos CP. A clinical guide to epileptic syndromes and their treatment. Second edition. Springer, Oxfordshire, 2007: 475-82.
[3]  Baykal B. Progresif miyoklonik hastal›klar- Lafora hastal. Epilepsi 2008; 14: 17-51.
[4]  Kaplan KJ, Nelson BL. Pathologic quiz case myoclonic epilepsy and cognitive decline in a 19-year old man. Arch Pathol Lab Med 2003; 127: 231-2.
[5]  Couarch P, Vernia S, Gourfinkel-An I, et al. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. J Mol Med 2011; 89: 915-25.
[6]  Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat 2009; 30: 715-23.
[7]  Turnbull J, Girard JM, Lohi H, et al. Early-onset Lafora body disease. Brain 2012; 135: 2684-98.
[8]  Spuch C, Ortolano S, Navarro C. Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. Recent Pat Endocr Metab Immune Drug Discov 2012;6:99-107.
[9]  Acharya JN, Satishchandra P, Asha T. Lafora’s disease in South India: A clinical, electrophysiologic, and pathologic study. Epilepsia 1993; 34: 476-87.
[10]  Carpenter S, Karpeti G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 1991; 31: 1564-8.
[11]  Nishimura RN, Ishak KG, Reddick R, Porter R, James S, Barranger JA. Lafora disease: diagnosis by liver biopsy. Ann Neurol 1980; 8: 409-15.
[12]  Kaufmann MA, Dwork AJ, Willson NJ. Late onset Lafora’s disease. Neurology 1993; 43: 1246-48.
[13]  Comoglu S, Ozbakir S, Pesinci E. Diagnosis of Lafora Body Disease by Axillary Skin Biopsy. Turk J Med Sci 2006; 36: 235-237.
[14]  Striano P, Zara F, Turnbull J, et al. Typical progression of myoclonic epilepsy of the Lafora type. Nature clinical practice neurology 2008; 4: 106-11.
[15]  Dirani M, Nasreddine W, Abdulla F, Beydoun A. Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel. Epilepsy & Behavior Case reports 2014; 2: 164-166.
[16]  Schorlemmer K, Bauer S, Belke M et al. Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease). Epilepsy & Behavior Case reports 2013; 1: 118-121.