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Updated: Aug 15, 2026

Generation of Monocyte-Derived Dendritic Cells with Differing Sialylated Phenotypes
Published on: October 20, 2023
[Sialidosis type I. Two cases in a family]
A Chinchurreta-Capote1, F J Beltrán-Ureña, M España-Contreras
1Servicio Oftalmología, Hospital Carlos Haya, Málaga, Spain. achinchu@hotmail.com
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.
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