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NR 3/2004
SUPLEMENT
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Choroba Sandhoffa
oraz Tay Sachsa – w oparciu o przypadki własne
Sandhoff’s and Tay-Sachs
disease on the base of our own cases
Witold Kokot1, Krystyna
Raczyńska1, Jarosława Krajka-Lauer1,
Barbara Iwaszkiewicz-Bilikiewicz1, Jolanta Wierzba2
1Z Katedry i Kliniki Chorób Oczu Akademii Medycznej w
Gdańsku
Kierownik: prof. dr hab. n. med. Barbara
Iwaszkiewicz-Bilikiewicz
2Z Kliniki Pediatrii, Hematologii, Onkologii i
Endokrynologii Akademii Medycznej w Gdańsku
Kierownik: prof. dr hab. n. med. Anna Balcerska |
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| Summary: |
The authors described two
infant with Sandhoff's and Tay-Sachs disease. Tay-Sachs
disease is well-known inherited disease leading to an
accumulation of gangliosides in the brain and retina.
Sandhoff's disease (GM2 gangliosidosis type 0) was
diagnosed in an infant, in whom a progressive
neurological disorder and cherry-red foveal spots were
developed. In addition, to the general clinical
examination, indirect ophthalnoscopy, blood white cells
enzymatic examination are used to make definitive
diagnosis. In this cases, the early eye fundus
examination allowed us to make the proper diagnosis.
The fundus change is characterized by the "cherry-red
spot" in the central area. |
| Słowa kluczowe: |
choroba Sandhoffa i Tay
Sachsa. |
| Key words: |
Sandhoff's and Tay-Sachs
disease. |
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