PDF(Pubmed)
Abstract：
Paget\'s disease of bone (PDB) usually presents with bone pain and deformities. Herein, we describe a case of PDB who presented with gradually progressive quadriparesis. A man in his forties presented with gradually progressive proximal muscle weakness involving all four limbs. The patient had an elevated serum alkaline phosphatase level and osteosclerosis at various skeletal sites in a radiological skeletal survey. 18F-fluorodeoxyglucose (FDG) PET-CT showed FDG-avid sclerotic-lytic lesions at multiple skeletal sites. Histopathology evaluation of bone and muscle biopsy specimens revealed PDB and inclusion body myopathy (IBM) with neurogenic atrophy, respectively. A diagnosis of IBM associated with PDB without frontotemporal dementia (IBMPFD) was suspected and confirmed by exome sequencing, which revealed a heterozygous mutation in the VCP gene. The bone disease responded to zoledronate administration. A high index of suspicion for IBMPFD should be kept in mind in any patient with PDB presenting with proximal muscle weakness.
摘要：
佩吉特骨病（PDB）通常表现为骨疼痛和畸形。在这里，我们描述了一例PDB患者,表现为逐渐进行性四肢轻瘫.一名四十多岁的男子表现出累及所有四肢的逐渐进行性近端肌肉无力。在放射学骨骼检查中，患者的血清碱性磷酸酶水平升高，各个骨骼部位的骨硬化。18F-氟代脱氧葡萄糖（FDG）PET-CT显示多个骨骼部位富含FDG的硬化-溶解性病变。骨和肌肉活检标本的组织病理学评估显示PDB和包涵体肌病（IBM）伴有神经源性萎缩，分别。怀疑并通过外显子组测序证实了IBM与PDB相关的诊断，但没有额颞叶痴呆（IBMPFD）。揭示了VCP基因的杂合突变。骨疾病对唑来膦酸盐给药有反应。对于任何表现为近端肌无力的PDB患者，应牢记对IBMPFD的高度怀疑指数。
