RESUMEN
BACKGROUND AND PURPOSE: The phenotype of IBMPFD [inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein (VCP) mutation is described in three families. METHODS: Probands were identified based on a pathological diagnosis of frontotemporal lobar degeneration with TDP-43-positive inclusions type IV. VCP sequencing was carried out. Clinical data on affected family members were reviewed. RESULTS: Ohio family: four subjects presented muscle weakness and wasting. (One subject had both neuropathic and myopathic findings and another subject showed only evidence of myopathy. The etiology of weakness could not be ascertained in the remaining two subjects.) Two individuals also showed Parkinsonism (with associated FTD in one of the two). The proband's brain displayed FTLD-TDP type IV and Braak stage five Parkinson's disease (PD). A VCP R191Q mutation was found. Pennsylvania family: 11 subjects developed IBMPFD. Parkinsonism was noted in two mutation carriers, whilst another subject presented with primary progressive aphasia (PPA). A novel VCP T262A mutation was found. Indiana family: three subjects developed IBMPFD. FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness. A VCP R159C mutation was found. CONCLUSIONS: We identified three families with IBMPFD associated with VCP mutations. Clinical and pathological PD was documented for the first time in members of two families. A novel T262A mutation was found. One individual had PPA: an uncommon presentation of IBMPFD.
Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Ciclo Celular/genética , Demencia Frontotemporal/genética , Distrofia Muscular de Cinturas/genética , Miositis por Cuerpos de Inclusión/genética , Osteítis Deformante/genética , Anciano , Sistema Nervioso Central/metabolismo , Sistema Nervioso Central/patología , Proteínas de Unión al ADN/metabolismo , Femenino , Demencia Frontotemporal/complicaciones , Demencia Frontotemporal/diagnóstico , Demencia Frontotemporal/metabolismo , Demencia Frontotemporal/patología , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular de Cinturas/complicaciones , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/metabolismo , Distrofia Muscular de Cinturas/patología , Miositis por Cuerpos de Inclusión/complicaciones , Miositis por Cuerpos de Inclusión/diagnóstico , Miositis por Cuerpos de Inclusión/metabolismo , Miositis por Cuerpos de Inclusión/patología , Osteítis Deformante/complicaciones , Osteítis Deformante/diagnóstico , Osteítis Deformante/metabolismo , Osteítis Deformante/patología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/metabolismo , Enfermedad de Parkinson/patología , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Proteína que Contiene ValosinaRESUMEN
We report the imaging findings and histopathology of a rare case of sacral hibernoma in a female presenting with right buttock pain while sitting. The lesion was occult on radiographs and CT scan. A small, rounded right S2 lesion was hypointense on T 1 weighted images and hyperintense on short tau inversion-recovery images. It demonstrated homogeneous contrast enhancement. The lesion was biopsied, and histopathology revealed an intraosseous hibernoma composed of brown fat cells. Intraosseous hibernomas are rare and demonstrate non-specific imaging findings requiring biopsy for diagnosis, although most hibernomas are incidental and asymptomatic. Initial treatment with microwave ablation and cementoplasty improved the patient's symptoms temporarily but cementoplasty caused radicular symptoms, and eventually, cement removal, bone curettage, grafting and sacral nerve root decompression were required for symptom remission.