Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience
Iranian Journal of Child Neurology,
Vol. 13 No. 1 (2019),
1 January 2019
,
Page 115-120
https://doi.org/10.22037/ijcn.v13i1.16220
Abstract
Abstract:
Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors' attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.
Keywords: Progressive myoclonus epilepsy; Lafora disease; NHLRC1 mutation
- Lafora disease
- NHLRC1 mutation.
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References
Lafora GR and Glueck B. (1911) Contribution to the histopathology of the myoclonic epilepsies [German]. Z Gesamte Neurol Psychiatr, 6: 1–14
Zutt, R., Drost, G., Vos, Y. J., et al. (2016) Unusual Course of Lafora Disease. Epilepsia Open, 1: 136–139. doi:10.1002/epi4.12009
Gayarre J, Duran-Trío L, Criado Garcia O, et al. (2014) The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease. Brain. 137(Pt 3):806-18. doi: 10.1093/brain/awt353. Epub 2014 Jan 14.
Jansen AC, Andermann E. Progressive Myoclonus Epilepsy, Lafora Type. 2007 Dec 28 [Updated 2015 Jan 22]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1389/
Corcia L, Hohensee S, Olivero A, et al. (2014) Lafora disease with novel autopsy findings: a case report with endocrine involvement and literature review. Pediatr Neurol. 51(5):713-6. doi: 10.1016/j.pediatrneurol.2014.07.034. Epub 2014 Aug 7.
Oksel F, Tekgül H, Genç S, et al. (1999) A case of Lafora's disease associated with cardiac arrhythmia. J Child Neurol. 14(11):745-6.
Striano P, Zara F, Turnbull J, et al. (2008) Typical progression of myoclonic epilepsy of the Lafora type: a case report. Nature Clinical Practice Neurology. 4, 106-111 . doi:10.1038/ncpneuro0706
Jain RS, Gupta A, Gupta PK, et al. (2016) Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding. Annals of Indian Academy of Neurology. 19(2):269-271. doi:10.4103/0972-2327.176862.
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