Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy
| Autor: | G. Capece, Antonio Federico, N. D'Auria, A. Cecio, P. Di Natale, G. Di Iorio, L. Ronsisvalle |
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| Přispěvatelé: | Federico, A, Capece, G, Cecio, A, D'Auria, N, DI IORIO, Giuseppe, Ronsisvalle, L, DI NATALE, P. |
| Rok vydání: | 1981 |
| Předmět: |
Male
Pathology medicine.medical_specialty Conjunctiva Urinary system Mucopolysaccharidosis Vacuole Diagnosis Differential Excretion Glycosaminoglycan Mucopolysaccharidosis III Acetylglucosaminidase Humans Medicine Child Glycosaminoglycans business.industry Mucopolysaccharidoses medicine.disease Pedigree medicine.anatomical_structure Neurology Neurology (clinical) Differential diagnosis business |
| Zdroj: | Journal of Neurology. 225:77-83 |
| ISSN: | 1432-1459 0340-5354 |
| Popis: | A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders. |
| Databáze: | OpenAIRE |
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