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.
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Early infantile GS presents with signs between birth and 3 months of age, including non-immune hydrops fetalis, neonatal edema, coarse facies, inguinal hernias, proteinuria, and telangectasias.
“The early infantile type of GS presents with signs of the disease between birth and 3-months of age; these include non-immune hydrops fetalis, neonatal edema, coarse facies, inguinal hernias, proteinuria and telangectasias.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [11]
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Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
- Authors
- Sewell, A. C., Pontz, B. F., Weitzel, D., & Humburg, C.
- Affiliations
- Johannes Gutenberg University Mainz (DE)
- Venue
- European Journal of Pediatrics
- Published
- 1987-09
- Volume
- 146
- Issue
- 5
- Pages
- 528-531
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2070018648
- Cited by
- 32
- References
- 0
- Citations by year
- 2025: 1 · 2023: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2012: 2
- FWCI
- 0.98
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- clinical heterogeneity, beta-galactosidase deficiency, urinary oligosaccharides, renal enlargement, corneal clouding, lysosomal storage disease
- MeSH terms
- beta-Galactosidase, Female, Fibroblasts, Galactosidases, Humans, Infant, Kidney, Lactose Intolerance, Myocardium, Neuraminidase, Oligosaccharides, Ultrasonography
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