[Sialidosis type I. Two cases in a family].
METHODS
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.
Chinchurreta-Capote
A
A
Servicio Oftalmología, Hospital Carlos Haya, Málaga, Spain. achinchu@hotmail.com
Beltrán-Ureña
F J
FJ
España-Contreras
M
M
D000328:Adult; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics; D009887:Ophthalmoscopy; D010641:Phenotype; D041623:Tomography, Optical Coherence