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Archivos de la Sociedad Española de Oftalmología
versión impresa ISSN 0365-6691
Resumen
CHINCHURRETA-CAPOTE, A; BELTRAN-URENA, FJ y ESPANA-CONTRERAS, M. Sialidosis type I: Two cases in a family. Arch Soc Esp Oftalmol [online]. 2005, vol.80, n.9, pp.537-540. ISSN 0365-6691.
Case report: We present two cases of sialidosis type 1 in two brothers, 28 and 30 years of age. Both have seizures and severe gait instability. Ophthalmoscopic examination showed a cherry-red spot in both eyes. Fibroblast culture revealed a marked reduction in neuraminidase with no alteration in galactosidase, confirming that our patients have sialidosis type I. Conclusions: We highlight the ease with which this rare syndrome can remain undetected and how a simple ophthalmoscopic examination is able to reveal the diagnosis.
Palabras clave : Sialidosis type I; Cherry-red spot.