Neurol. pro Praxi, 2002; 4: 187-189

Hereditární neuropatie s kongenitální kataraktou a faciální dysmorfií

MUDr. Dana Šišková
Dětská neurologie FTN a IPVZ, Praha

Keywords: hereditární neuropatie, Congenital cataracts facial dysmorphism neuropathy, CCFDN.

Published: December 31, 2002  Show citation

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Šišková D. Hereditární neuropatie s kongenitální kataraktou a faciální dysmorfií. Neurol. praxi. 2002;3(4):187-189.

V roce 1999 vyčlenila skupina bulharských a dalších autorů novou jednotku z okruhu hereditárních neuropatií -onemocnění, jež se kromě neuropatie vyznačuje dalšími rysy, kongenitální kataraktou, faciální dysmorfií, kognitivním deficitem apod. Anglické pojmenování Congenital cataracts facial dysmorphism neuropathy syndrom je zkracováno jako CCFDN. Chceme toto onemocnění více přiblížit a uvádíme dva případy z naší praxe.

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    References

    1. Angelicheva D, et al. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 1999; 7: 560-566. Go to original source... Go to PubMed...
    2. Nelis E, et al. Molecular genetics and biology of inherited peripheral neuropathies: a fast moving field. Neurogenetics 1999; 2: 137-148. Go to original source... Go to PubMed...
    3. On line Mendelian Genetics (OMIM).
    4. Tournev I, et al. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balcan Gypsies: clinical and electrophysiological observations. Ann neurol 1999; 6: 742-750. Go to original source...
    5. Tournev I, et al. Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol 1999; 98: 165-170. Go to original source... Go to PubMed...

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