Resumo

CHINCHURRETA-CAPOTE, A; BELTRAN-URENA, FJ  e  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.

Palavras-chave : Sialidosis type I; Cherry-red spot.