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A type of progressive myoclonic epilepsy, Lafora disease: A case report

Yıl 2013, Cilt: 18 Sayı: 1, 34 - 36, 02.05.2013

Öz

Abstract. Lafora disease is arare group of progressive myoclonic epilepsies characterized with progressiveneurological dysfunction, myoclonus, focal and generalized seizures. Generally,a generalized tonic clonic seizure is the first symptom of the disease. An11-year-old male patient had been followed-up at another center for epilepsyfor 8 years.  The patient had a historyof myoclonic seizures for nearly every day for the last 2 years and cognitivedetoriation for the last 8 months. He admitted to our hospital with the desireof his family. Eccrine sweat gland biopsy was performed. The biopsy of the sweatgland was positive for PAS and contained diastase resistant polyglican content(Lafora bodies), and thus, a diagnosis of Lafora disease was established. Thepatient presented here constitutes a rare case of pediatric epilepsy, whichcaused neurodegeneration in late-childhood and onset with typical epilepsysymptoms. This report also aimed to show that biopsy obtained from proper areais important for diagnosis Our patient  developed cognitive dysfunction a short period of eight months.To our knowledge, this is the shortest period in literature. Key words: Lafora Disease, progressive myoclonic epilepsy, neurodegeneration

Kaynakça

  • Zupanc ML, Legros B. Progressive myoclonic epilepsy. Cerebellum 2004; 3: 156-171.
  • Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4: 239-248. Gentry MS, Dixon JE, Worby CA. Lafora disease: insights into neurodegeneration from plant metabolism. Trends Biochem Sci 2009; 34: 628-639. Acharya JN, Satischandra P, Asha T, Shankar SK. Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study. Epilepsia 1993; 34: 476-487.
  • Lohi H, Chan EM, Scherer SW, Minassian BA. On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. Adv Neurol 2006; 97: 399-415.
  • Andrade DM, Ackerley CA, Minett TS, et al. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003; 61: 1611-1614.
  • Panzica F, Canafoglia L, Franceschetti S, et al. Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models. Clin Neurophysiol 2003; 114: 1041-1052.
  • Canafoglia L, Ciano C, Panzica F, et al. Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology 2004; 63: 230923
  • Boccella P, Striano P, Zara F, et al. Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. Clin Neurol Neurosurg 2003; 106: 55-59. Chan EM, Bulman DE, Paterson AD, et al. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J Med Genet 2003; 40: 671-675.
  • Ganesh S, Delgado-Escueta AV, Suzuki T, et al. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet 2002; 11: 1263-1271.
Yıl 2013, Cilt: 18 Sayı: 1, 34 - 36, 02.05.2013

Öz

Kaynakça

  • Zupanc ML, Legros B. Progressive myoclonic epilepsy. Cerebellum 2004; 3: 156-171.
  • Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4: 239-248. Gentry MS, Dixon JE, Worby CA. Lafora disease: insights into neurodegeneration from plant metabolism. Trends Biochem Sci 2009; 34: 628-639. Acharya JN, Satischandra P, Asha T, Shankar SK. Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study. Epilepsia 1993; 34: 476-487.
  • Lohi H, Chan EM, Scherer SW, Minassian BA. On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. Adv Neurol 2006; 97: 399-415.
  • Andrade DM, Ackerley CA, Minett TS, et al. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003; 61: 1611-1614.
  • Panzica F, Canafoglia L, Franceschetti S, et al. Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models. Clin Neurophysiol 2003; 114: 1041-1052.
  • Canafoglia L, Ciano C, Panzica F, et al. Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology 2004; 63: 230923
  • Boccella P, Striano P, Zara F, et al. Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. Clin Neurol Neurosurg 2003; 106: 55-59. Chan EM, Bulman DE, Paterson AD, et al. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J Med Genet 2003; 40: 671-675.
  • Ganesh S, Delgado-Escueta AV, Suzuki T, et al. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet 2002; 11: 1263-1271.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Report
Yazarlar

Ömer Bektaş

Arzu Yılmaz Bu kişi benim

Aylin Heper Okcu Bu kişi benim

Serap Teber Bu kişi benim

Erhan Aksoy Bu kişi benim

Gülhis Deda Bu kişi benim

Yayımlanma Tarihi 2 Mayıs 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 18 Sayı: 1

Kaynak Göster

APA Bektaş, Ö., Yılmaz, A., Okcu, A. H., Teber, S., vd. (2013). A type of progressive myoclonic epilepsy, Lafora disease: A case report. EASTERN JOURNAL OF MEDICINE, 18(1), 34-36.
AMA Bektaş Ö, Yılmaz A, Okcu AH, Teber S, Aksoy E, Deda G. A type of progressive myoclonic epilepsy, Lafora disease: A case report. EASTERN JOURNAL OF MEDICINE. Mayıs 2013;18(1):34-36.
Chicago Bektaş, Ömer, Arzu Yılmaz, Aylin Heper Okcu, Serap Teber, Erhan Aksoy, ve Gülhis Deda. “A Type of Progressive Myoclonic Epilepsy, Lafora Disease: A Case Report”. EASTERN JOURNAL OF MEDICINE 18, sy. 1 (Mayıs 2013): 34-36.
EndNote Bektaş Ö, Yılmaz A, Okcu AH, Teber S, Aksoy E, Deda G (01 Mayıs 2013) A type of progressive myoclonic epilepsy, Lafora disease: A case report. EASTERN JOURNAL OF MEDICINE 18 1 34–36.
IEEE Ö. Bektaş, A. Yılmaz, A. H. Okcu, S. Teber, E. Aksoy, ve G. Deda, “A type of progressive myoclonic epilepsy, Lafora disease: A case report”, EASTERN JOURNAL OF MEDICINE, c. 18, sy. 1, ss. 34–36, 2013.
ISNAD Bektaş, Ömer vd. “A Type of Progressive Myoclonic Epilepsy, Lafora Disease: A Case Report”. EASTERN JOURNAL OF MEDICINE 18/1 (Mayıs 2013), 34-36.
JAMA Bektaş Ö, Yılmaz A, Okcu AH, Teber S, Aksoy E, Deda G. A type of progressive myoclonic epilepsy, Lafora disease: A case report. EASTERN JOURNAL OF MEDICINE. 2013;18:34–36.
MLA Bektaş, Ömer vd. “A Type of Progressive Myoclonic Epilepsy, Lafora Disease: A Case Report”. EASTERN JOURNAL OF MEDICINE, c. 18, sy. 1, 2013, ss. 34-36.
Vancouver Bektaş Ö, Yılmaz A, Okcu AH, Teber S, Aksoy E, Deda G. A type of progressive myoclonic epilepsy, Lafora disease: A case report. EASTERN JOURNAL OF MEDICINE. 2013;18(1):34-6.