Clinical heterogeneity in infantile galactosialidosis

A. C. Sewell, B. F. Pontz, D. Weitzel, C. Humburg

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

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 α-neuraminidase and β-galactosidase. The patient's clinical features are compared with the few cases so far described in the literature.

Original languageEnglish
Pages (from-to)528-531
Number of pages4
JournalEuropean Journal of Pediatrics
Volume146
Issue number5
DOIs
StatePublished - Sep 1987
Externally publishedYes

Keywords

  • Galactosialidosis
  • Heterogeneity
  • Oligosaccharides

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