Severe destructive polyarthropathy in association with a metabolic storage disease. A case report.

Eckhoff, Dörte; Garlock, Jenna

doi:10.2106/00004623-199274080-00019

Cited by 9 publications

(2 citation statements)

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“…Genu valgus (knucle knee) is common and, like the same complication in Gaucher disease, may be treated with epiphyseal arthrodesis at a young age before the epiphyseal lineation of the knee is closed [ 23 ]. Over time, from the second till the fourth decade of life the patients may develop destructive polyarthropathy, especially coxarthrosis (Fig 3 ), but also gonarthrosis [ 24 , 25 ]. These are often so serious that orthopedic corrections are needed [ 26 ].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Alpha-mannosidosis

Malm

Nilssen

2008

Orphanet J Rare Dis

161

174

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Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the first year of life. Main features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis and deformation of the sternum), hearing impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis. Associated motor function disturbances include muscular weakness, joint abnormalities and ataxia. The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. Slight strabismus is common. The clinical variability is significant, representing a continuum in severity. The disorder is caused by lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in the MAN2B1 gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing. Elevated urinary secretion of mannose-rich oligosaccharides is suggestive, but not diagnostic. Differential diagnoses are mainly the other lysosomal storage diseases like the mucopolysaccharidoses. Genetic counseling should be given to explain the nature of the disease and to detect carriers. Antenatal diagnosis is possible, based on both biochemical and genetic methods. The management should be pro-active, preventing complications and treating manifestations. Infections must be treated frequently. Otolaryngological treatment of fluid in the middle ear is often required and use of hearing aids is invariably required. Early educational intervention for development of social skills is needed and physiotherapy is important to improve bodily function. Orthopedic surgery may be necessary. The long-term prognosis is poor. There is an insidiously slow progression of neuromuscular and skeletal deterioration over several decades, making most patients wheel-chair dependent. No patients manage to be completely socially independent. Many patients are over 50 years of age.

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Section: Clinical Descriptionmentioning

confidence: 99%

Alpha-mannosidosis

Malm

Nilssen

2008

Orphanet J Rare Dis

161

174

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“…Alpha-mannosidase deficiency is an extremely rare genetic disease [1][2][3]. According to the Canadian Mucopolysaccharidosis Society, it has only been reported to date in fewer than 100 cases worldwide.…”

Section: Introductionmentioning

confidence: 99%

Bilateral patellar dislocation associated with alpha-mannosidase deficiency

Hale

Bales²,

Rosenzweig³

et al. 2006

Journal of Pediatric Orthopaedics B

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Mannosidosis is an extremely rare genetic disease characterized by a deficiency of the lysosomal enzyme, alpha-mannosidase. This enzyme is necessary for cleavage of mannose from many glycoproteins. In the absence of this enzyme, mannose accumulates in cells throughout the body, including the joints and the synovium. This disease causes many skeletal changes including dysostosis multiplex, synovial hypertrophy, and Charcot-type joints. We report the case of a girl, aged 9 years and 6 months, who developed bilateral patellar dislocation and severe synovial hypertrophy secondary to alpha-mannosidase deficiency. Her disease was further complicated by Charcot elbow and bilateral hip and elbow avascular necrosis.

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Gelenke, Sehnen und Sehnengleitgewebe, Bursen, Faszien

Mohr¹

1997

Pathologie 5

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Severe destructive polyarthropathy in association with a metabolic storage disease. A case report.

Cited by 9 publications

References 0 publications

Alpha-mannosidosis

Alpha-mannosidosis

Bilateral patellar dislocation associated with alpha-mannosidase deficiency

Gelenke, Sehnen und Sehnengleitgewebe, Bursen, Faszien

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