[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]

Orthopade. 2012 Jun;41(6):482-7. doi: 10.1007/s00132-012-1935-6.
[Article in German]

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.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Alkaline Phosphatase / blood
  • Biopsy
  • Bone and Bones / pathology
  • Cell Cycle Proteins / genetics*
  • Chromosomes, Human, Pair 9*
  • Combined Modality Therapy
  • Diagnostic Imaging
  • Frontotemporal Dementia / diagnosis*
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology
  • Frontotemporal Dementia / therapy
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Myositis, Inclusion Body / diagnosis*
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology
  • Myositis, Inclusion Body / therapy
  • Osteitis Deformans / diagnosis*
  • Osteitis Deformans / genetics*
  • Osteitis Deformans / pathology
  • Osteitis Deformans / therapy
  • Point Mutation*
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • Alkaline Phosphatase
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein