Lafora body disease presenting as neuropsychiatric illness
Abstract
Background: Lafora disease is a rare progressive myoclonus epilepsy with an autosomal recessive inheritance characterized by seizures, myoclonus and progressive cognitive decline.
Case characteristics: An 11 year old boy presented with complaints of aggressive behavior, abnormal movements and declining intellectual function and was earlier treated as a case of attention deficit hyperactivity disorder. The child was subjected to Axillary skin biopsy as a part of evaluation and diagnosed as a case of Lafora body disease. parental counselling done and the child was discharged on symptomatic treatment.
Message: Lafora body disease should be kept in mind while evaluating a child with neuropsychiatric manifestations.
Downloads
References
2. Erbay H, Balci C, Tomatir E etal. Refractory status epilepticus in intensive care unit: A case of Lafora body disease. Inter J Emer Inten Care Med 2003; E6 (2) :[on-line serial]. [PubMed]
3. Minassian BA , Ianzano L, Meloche M et al. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy .Neurology 2000;(55):341-6. [PubMed]
4. Wallace R. A second gene for Lafora disease. Epilepsy Curr 2004;(4):82-83. [PubMed]
5. 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. [PubMed]
6. Ünver O, Demirkesen C, Uysal S. Lafora disease: a progressive myoclonic epilepsy. Turk Arch Ped 2011;( 46): 161-3. R(5).
7. Satishchandra P and Sinha S. Lafora body disease: NIMHANS experience. CURRENT SC IENCE 2013; 105:6.
8. Berge A . Minassian BA. Lafora’s Disease: Towards a Clinical , Pathologic, and Molecular Synthesis. PEDIAT NEURO2001 ; 25 R(7). [PubMed]
9. Acharya, J. N., Satishchandra, P., Asha, T etal. LBD in south India – a clinical, electrophysiological and pathologicalstudy. Epilepsia, 1993; (34) 476–487. [PubMed]
10. Sinha, S., Satishchandra, P ., Yasha, T etal. Progressive myoclonic epilepsy: a clinical, electrophysiological and pathological study from south India. J. Neurol. Sci.,2007, (252), 16–23. [PubMed]
11. Rapin, I., Myoclonus in neuronal storage and Lafora diseases. In Myoclonus – Advances in Neurology (eds Fahn, S., Marsden, C. D and Von Woert, M. H.), Raven Press, New York, 1986, vol. 43,pp. 65–85.
12. Palmer GA, Mark FH. Medical and Mental Health Complications of Lafora Disease: A Case Report. Ment Health Asp of Dev Disability January/ February/ March 2007; 10 R(I).
13. Zupanc ML, Legros B. Progressive myoclonic epilepsy. Cerebellum 2004; 3: 156-171. [PubMed]
14. Bektaş O, Yılmaz A, Okcu AH etal. A type of progressive myoclonic epilepsy, Lafora disease: A case report. EastJour of Med 2013; (18) :34-36 R(2).
15. Comoglu S, Ozbakir S,Pesinci E. Diagnosis of Lafora Body Disease by Axillary Skin Biopsy.A case report. Turk J Med Sci 2006; (36) 235-237 R(3).
Copyright (c) 2016 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.