Wagner Matthias W, Poretti Andrea, Benson Jane E, Huisman Thierry A G M
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, MD.
Institute of Diagnostic and Interventional Radiology, University Hospital Zurich, Zurich, Switzerland.
J Neuroimaging. 2017 Mar;27(2):162-209. doi: 10.1111/jon.12413. Epub 2016 Dec 21.
Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.
遗传性骨骼疾病（GSDs）是一组异质性疾病，其特征是软骨和骨的生长及（再）塑形存在内在异常。一大类GSDs除骨骼外还累及其他结构/器官，如中枢神经系统（CNS）。CNS异常在GSDs患儿的长期预后中起重要作用，因此不应被忽视。在评估患有GSD的儿童时，要敏感且特异性地识别CNS病变，需要详细了解可能相关的CNS异常情况。在此，我们提供一种基于GSD明显骨骼表现指导的GSDs神经影像学表现的模式识别方法。特别是，我们总结了每种GSD应排除哪些CNS表现。这些疾病（n = 180）根据骨骼受累情况进行分类（1. 干骺端或骨骺异常，2. 骨骼大小/数量异常，3. 骨骼和关节形状异常，4. 动态或结构异常变化）。对于每种疾病，骨骼受累情况根据《人类孟德尔遗传在线》进行定义。基于广泛的文献检索描述了形态学上的CNS受累情况。将根据疾病的患病率和CNS受累的重要性展示选定的例子。CNS受累在GSDs中很常见。多种形态学异常与GSDs相关。CNS受累的早期诊断对GSDs患儿的管理很重要。这种模式识别方法旨在协助和指导医生对GSDs患儿CNS受累情况进行诊断检查及其管理。
