engleski

Sialidosis type II: clinical, biochemical and neuroradiological study of two siblings

Sialidosis (neuroaminidase deficiency) is a lysosomal storage disease characterized by the accumulation and/or excretion of sialic acid covalently linked to oligosaccharides and/or glycoproteins. The disease was classified as sialidosis type 1 - normomorphic (cherry red spot - myoclonus syndrome) and type 2 - dysmorphic, infantile and juvenile form. Clinical, biochemical and neuroradiological findings are presented of two siblings, 20-year old girl and 15-year old boy affected with type II sialidosis. In both diagnosis of MPS IV was suspected at the age of 3-5 years, as they presented with short trunk and relatively long limbs, coarse facial features, impaired hearing, dysostosis multiplex and average intellectual development. By the age of 11 years both children developed myoclonic seizures, ataxia and dysarthria. They developed contractures and became immobile between the age of 15 and 20 years. Diagnosis was made by the finding of elevated levels of sialooligosaccharides in the urine and profound sialidase deficiency in skin fibroblasts and leukocytes. The patients illustrate a clinical variability of neuraminidase deficiency. Characterization of the molecular defects is needed to better understand the genotype-phenotype correlation in sialidosis patients.

Sialidosis type II, N-acetyeneuraminc acid, neuraminidase deficiency

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