[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up].
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.
Orthopädische Klinik und Poliklinik, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland.
D
D
Zajonz
C
C
Langsieb
L
L
Chavdarova
S
S
Kellermann
P
P
Baum
C
C
Wickenhauser
G
G
von Salis-Soglio
T
T
Prietzel
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000469:Alkaline Phosphatase / Q000097:blood; D001706:Biopsy; D001842:Bone and Bones / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D003131:Combined Modality Therapy; D003952:Diagnostic Imaging; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D018979:Myositis, Inclusion Body / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010001:Osteitis Deformans / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D017354:Point Mutation; D000074405:Valosin Containing Protein
D018797:Cell Cycle Proteins; D000469:Alkaline Phosphatase; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein