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NR. 3(II)/2009
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Choroba
Bourneville’a-Pringle’a – wielonarządowa fakomatoza.
Opis przypadku
Bourneville-Pringle Disease – Multiorgan Phacomatosis.
Case report.
Dominika Białas, Dorota
Białas-Niedziela, Iwona Świtka-Więcławska, Dariusz Kęcik
Katedra i Klinika Okulistyki I Wydziału Lekarskiego
Warszawskiego Uniwersytetu Medycznego
Kierownik: dr hab. n. med. prof. nadzw. Dariusz Kęcik |
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| Summary: |
Tuberous sclerosis complex
is a progressive, multisystem disorder characterized by
the formation of angiomiolipomas or tubers affecting
predominantly brain, skin (called adenoma sebaceum),
kidneys and heart. The disease is inherited as an
autosomal dominant trait with variable penetrance and
high spontaneous mutation rate. This disease is
associated with mutation in two tumour suppressor genes:
TSC1 and TSC2. Two different genetic loci have been
identified on chromosome 9q34 (TSC1) and one on
chromosome 16p13 (TSC2).
The most suggestive eye finding of TSC is retinal
astrocytic hamartoma found in 50 to 85% of patients.
Three basic morphologic types of retinal hamartomas are
recognized: the most common type is flat,
semitransparent, circular or oval-shaped lesion, the
second type is white, elevated, multinodular calcified
lesions described as resembling a mulberry and the third
type of lesions contains features of the other two.
Other eye findings may include: angiofibromas of the
eyelids, poliosis, atypical coloboma of the iris and
lens, choroid coloboma, microphthalmia, exophtalmos,
hypomelanocytic maculas and optic nerve oedema.
The prevalence of tuberous sclerosis among general
population is estimated to be one in 10.000-30.000. |
| Key words: |
tuberous sclerosis complex,
Vogt’s triad, retinal astrocytic hamartomas. |
| Słowa kluczowe: |
stwardnienie guzowate,
triada Vogta, siatkówkowe hamartoma astrocytowe. |
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