Neurol. praxi. 2008;9(3):155-158

Tuberózna skleróza z pohľadu neurológa

MUDr. Ladislav Gurčík1, MUDr. Anna Tomášová1, MUDr. Ondrej Benc1, MUDr. Peter Galik1, MUDr. Veronika Gašparíková1, MUDr. Slávka Lišková1, RNDr. Radek Vrtěl, Ph.D.2
1 Neurologické oddelenie NsP Levoča
2 Ústav lékařské genetiky a fetální medicíny LF UP a FN Olomouc

V súčasnej dobe sme svedkami výrazného nárastu záujmu a poznatkov týkajúcich sa hereditárnych ochorení, ku ktorým patrí aj tuberózna skleróza. Na diagnózu upozorní klinický obraz, jeho variabilita, čo by malo smerovať k realizácii algoritmu vyšetrovacích postupov zameraných na potvrdenie alebo vylúčenie ochorenia. Tuberózna skleróza sa manifestuje prevažne u detí, s pribúdajúcim vekom ide pri primozáchyte častejšie o frustné formy zistené náhodne pri zobrazovacích vyšetreniach. Základom diagnostiky ochorenia je aj v súčasnosti podrobné klinické vyšetrenie v detskom aj dospelom veku. DNA analýza je iba doplnková metóda v nejasných prípadoch, má však zásadný význam pre plánovanie rodičovstva v rodinách s výskytom tuberóznej sklerózy. Autori v prehľadovom článku poskytujú recentné poznatky o etiopatogenéze, klasifikácii, diagnostických kritériách, klinickom obraze, diagnostike a liečbe tohto neurokutánneho syndrómu.

Keywords: tuberózna skleróza, hamartóm, hamarcia

Published: July 1, 2008  Show citation

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Gurčík L, Tomášová A, Benc O, Galik P, Gašparíková V, Lišková S, Vrtěl R. Tuberózna skleróza z pohľadu neurológa. Neurol. praxi. 2008;9(3):155-158.
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    References

    1. Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, et al. Malignant tumors of the kidney, brain and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998; 83: 2208-2216. Go to original source...
    2. Bissler JJ, McCormack FX. Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis. New England Journal of Medicine 2008; 358: 140-151. Go to original source... Go to PubMed...
    3. Curatolo P, et al. Tuberous sclerosis complex. From basic science to clinical phenotypes. Cambridge: Cambridge University Press 2003.
    4. Duchowny M, Levin B, Jayakar P, et al. Temporal lobectomy in early childhood. Epilepsia 1993; 33: 298-303. Go to original source... Go to PubMed...
    5. Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Annals of Neurology 2006; 59(3): 490-498. Go to original source... Go to PubMed...
    6. Gomez MR. Tuberous sclerosis. New York: Raven Press 1999.
    7. Guerreiro MM, Andermann F, Andermann E, Palmini A. Surgical treatment of epilepsy in tuberous sclerosis. Neurology 1998; 51: 1263-1269. Go to original source... Go to PubMed...
    8. Gurčík L. Tuberózna skleróza. Levoča: Polypress 2007.
    9. Jarrar RG, Buchhalter JR. Long-term outcome of epilepsy surgery in patients with tuberous sclerosis. Neurology 2004; 62: 567-571. Go to original source... Go to PubMed...
    10. Jones AC, Shyamsundar MM, Thomas MW, Maynard J, et al. Comprehensive mutation analysis of TSC1 TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305-1315. Go to original source... Go to PubMed...
    11. Kagawa K, Chugani DC, Asano E, Juhász C. Epilepsy surgery outcome in children with tuberous sclerosis complex evaluated with alpha (11C) methyl-L-tryptophan positron emisson tomography (PET). J Child Neurol 2005; 20: 1120-1125. Go to original source... Go to PubMed...
    12. Kenerson H, Dundon TA, Yeung RS. Effects of rapamycin in the Eker rat model of tuberous sclerosis complex. Pediatr Res 2005; 57: 412-415. Go to original source... Go to PubMed...
    13. Ohmori J, Ohtsuka Y, Ohno S, Oka E. Analysis of ictal EEGs of epilepsy associated with tuberous sclerosis. Epilepsia 1998; 12: 1277-1283. Go to original source... Go to PubMed...
    14. Ohtsuka Y, Murashima I, Takashi A, Oka E, Othara S. Partial seizures in West syndrome. Epilepsia 1996; 37: 1060-1067. Go to original source... Go to PubMed...
    15. Roach ES. Tuberous sclerosis complex. In Neurocutaneous disorders. Roach ES and Miller VS edit, pp.60-70. UK: Cambridge Univ. Press 2004. Go to original source...
    16. Romanelli P, Verdecchia M. Epilepsy surgery for tuberous sclerosis. Pediatr Neurol 2004; 31: 239-247. Go to original source... Go to PubMed...
    17. Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of TSC1 and TSC2 genes in a diagnostic setting: genotype - phenotype correlation and comparison of diagnostic DNA techniques in TSC. European Journal of Human Genetics 2005; 13: 1102-1104. Go to original source... Go to PubMed...
    18. Spangler W J, Cosgrove GR, Moumdjian RA. Cerebral arterial ectasia and tuberous sclerosis case report. Neurosurgery 1997; 1: 191-194. Go to original source...
    19. Torres OA, Roach ES, Delgado MR. Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. J Child Neurol 1998; 13: 173-177. Go to original source... Go to PubMed...

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