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Published in: Clinical Rheumatology 1/2004

01-02-2004 | Case Report

Destructive joint disease in α-mannosidosis. A case report and review of the literature

Authors: A. H. Gerards, W. P. C. A. Winia, J. Westerga, B. A. C. Dijkmans, R. M. van Soesbergen

Published in: Clinical Rheumatology | Issue 1/2004

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Abstract

Storage of oligosaccharides due to a deficiency of α-mannosidase can lead to joint destruction in children and young adults. Treating hip destruction with a prosthesis might be successful in some of these patients, although diminished bone quality increases the risk of loosening of the prosthesis.
Literature
1.
go back to reference Ockerman PA (1967) A generalized storage disorder resembling Hurlers syndrome. Lancet II:239–241 Ockerman PA (1967) A generalized storage disorder resembling Hurlers syndrome. Lancet II:239–241
2.
go back to reference Monus Z, Konyar E, Szabo L (1977) Histomorphologic and histochemical investigations in mannosidosis, a light and electron microscopic study. Virchows Arch B Cell Pathol 26:159–173PubMed Monus Z, Konyar E, Szabo L (1977) Histomorphologic and histochemical investigations in mannosidosis, a light and electron microscopic study. Virchows Arch B Cell Pathol 26:159–173PubMed
3.
go back to reference Beaudet L, Thomas GH (1989) Disorders of glycoprotein degradation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1603–1621 Beaudet L, Thomas GH (1989) Disorders of glycoprotein degradation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1603–1621
4.
go back to reference Spranger J, Gehler J, Cantz M (1976) The radiographic features of mannosidosis. Radiology 119:401–407PubMed Spranger J, Gehler J, Cantz M (1976) The radiographic features of mannosidosis. Radiology 119:401–407PubMed
5.
go back to reference Eckhoff DG, Garlock JS (1992) Severe destructive polyarthropathy in association with metabolic storage disease. J Bone Joint Surg 74-A:1257–1261 Eckhoff DG, Garlock JS (1992) Severe destructive polyarthropathy in association with metabolic storage disease. J Bone Joint Surg 74-A:1257–1261
6.
go back to reference Patton MA, Barnes IC, Young ID, Harper PS, Pennock CA (1982) Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clin Genet 22:284–289PubMed Patton MA, Barnes IC, Young ID, Harper PS, Pennock CA (1982) Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clin Genet 22:284–289PubMed
7.
go back to reference Weiss SW, Kelly WD (1983) Bilateral destructive synovitis associated with alpha mannosidase deficiency. Am J Surg Pathol 7:487–494PubMed Weiss SW, Kelly WD (1983) Bilateral destructive synovitis associated with alpha mannosidase deficiency. Am J Surg Pathol 7:487–494PubMed
8.
go back to reference DeFriend DE, Brown AEM, Hutton CW, Hughes PM (2000) Mannosidosis: an unusual cause of a deforming arthropathy. Skeletal Radiol 29:358–361CrossRefPubMed DeFriend DE, Brown AEM, Hutton CW, Hughes PM (2000) Mannosidosis: an unusual cause of a deforming arthropathy. Skeletal Radiol 29:358–361CrossRefPubMed
9.
go back to reference Cooper WA, Hatton C, Sardharwalla IB, Evans DI, Stevens RF (1987) Bone marrow transplantation in the treatment of alpha-mannosidosis. Arch Dis Child 62:1044–1049PubMed Cooper WA, Hatton C, Sardharwalla IB, Evans DI, Stevens RF (1987) Bone marrow transplantation in the treatment of alpha-mannosidosis. Arch Dis Child 62:1044–1049PubMed
10.
go back to reference Malm D, Halvorsen DS, Tranebjaerg, Sjursen H (2000) Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 159:699–703CrossRefPubMed Malm D, Halvorsen DS, Tranebjaerg, Sjursen H (2000) Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 159:699–703CrossRefPubMed
Metadata
Title
Destructive joint disease in α-mannosidosis. A case report and review of the literature
Authors
A. H. Gerards
W. P. C. A. Winia
J. Westerga
B. A. C. Dijkmans
R. M. van Soesbergen
Publication date
01-02-2004
Publisher
Springer-Verlag
Published in
Clinical Rheumatology / Issue 1/2004
Print ISSN: 0770-3198
Electronic ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-003-0770-x

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