NEU1

Clinical Characteristics

Type I-Sialidosis is characterized by ataxia, myoclonic and bilateral tonic-clonic seizures (MS) and ophthalmological findings (red cherry macula spot).

Type II-Sialidosis is devided into 3 subtypes: congenital/neontatal, infantile (onset 0-12 months and juvenile form (13 months - 20 years). The earlier it occurs the more fulminant it becomes and it might be associated with hydrops faetalis, ascites and early death, or within the first year of life with symptoms such as coarsened facial features, enlargement of the spleen and liver, dysostosis multiplex, vertebral deformities and severe mental retardation.