[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]. / Multilokulärer Morbus Paget bei IBMPFD-Syndrom. Darstellung eines Krankheitsverlaufes über 14 Jahre.
Orthopade
; 41(6): 482-7, 2012 Jun.
Article
em De
| MEDLINE
| ID: mdl-22699758
ABSTRACT
Paget's osteodystrophia deformans is a monoostotic or polyostotic disease of the skeletal system with increased bone remodelling, structural modifications and skeletal deformation, typically arranged like a chessboard. The unusual case of a patient is described who had suffered from generalized Paget's disease of the bone for 14 years and also developed progressive myopathy and a behavioural variant frontotemporal dementia. Further cytogenetic diagnostics revealed a point mutation in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 consistent with the finding of inclusion body myopathy with early onset Paget's disease and frontotemporal dementia (IBMPFD syndrome). A causal therapy of this disease is not known. Conservative treatment with bisphosphonate therapy, intensive physiotherapeutic exercise and psychotherapeutic treatment was performed to retard the progression of the disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteíte Deformante
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Cromossomos Humanos Par 9
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Mutação Puntual
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Adenosina Trifosfatases
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Proteínas de Ciclo Celular
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Miosite de Corpos de Inclusão
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Demência Frontotemporal
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
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Middle aged
Idioma:
De
Ano de publicação:
2012
Tipo de documento:
Article