Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708, USA.
Skeletal Radiol. 2011 Dec;40(12):1611-5. doi: 10.1007/s00256-011-1260-x. Epub 2011 Sep 20.
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD--bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.
戈谢病（GD）是一种常染色体隐性溶酶体贮积病，其特征为葡萄糖脑苷脂酶活性降低或缺失。该疾病分为三型。第三型，即慢性神经病变型 GD，表现出异质性的临床表现。GD 的骨骼表现可包括异常的骨重塑，导致特征性的厄尔兰梅尔瓶畸形、骨痛危象、骨质疏松症和骨折频率增加。溶骨性病变也可能发生，但较为罕见，且往往是大的、扩展的髓内病变伴皮质变薄。我们介绍了两名患有第三型 GD 的青少年患者，他们均出现双侧对称性皮质溶骨性病变。两例病变均表现出明显的皮质切迹，生长较为缓慢。两名患者均无 GD 更为常见的骨骼表现，如骨危象或骨坏死。这两例不相关的 3 型 GD 先证者中出现的这种非典型和独特的骨骼表现，进一步扩展了这种单一基因疾病所遇到的表型变异程度。
