title: Clinical heterogeneity in infantile galactosialidosis.
abstract: A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the literature.
mesh_terms: D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D007787:Lactose Intolerance / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D014463:Ultrasonography; D001616:beta-Galactosidase / Q000172:deficiency*
chemical_list: D009844:Oligosaccharides; D005696:Galactosidases; D009439:Neuraminidase; D001616:beta-Galactosidase