title: Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.
abstract: A defect of lysosomal neuraminidase (sialidase N-acetyl-neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4-year-old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course over 3 years was characterized by slow growth and psychomotor development. He had mild hepatosplenomegaly, joint restriction, gingival hypertrophy, lens opacities and cherry-red spot. Coarse facial features and depressed nasal bridge were discreet. At the age of 3.5 years, he developed gradual progressive edema, decreased activity and increased fatigue. A diagnosis of nephrotic syndrome was made because of massive proteinuria. Thin-layer chromatography of urinary oligosaccharides revealed the presence of several abnormal sialyloligosaccharides. The diagnosis was confirmed by measurement of neuraminidase activity in cultured skin fibroblasts.
authors.affiliation: Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Tylki-Szymanska
authors.forename: A
authors.initials: A
authors.lastname: Lugowska
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D017809:Fatal Outcome; D005347:Fibroblasts / Q000737:chemistry; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D009404:Nephrotic Syndrome / Q000235:genetics*; D009439:Neuraminidase / Q000032:analysis / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D010641:Phenotype; D011044:Poland
chemical_list: D009844:Oligosaccharides; D009439:Neuraminidase