Sanford Children's Health Research Center, Sanford Children's Specialty Clinic, Department of Pediatrics, University of South Dakota, Sanford School of Medicine, Sioux Falls, SD, USA.
Semin Pediatr Neurol. 2012 Jun;19(2):67-74. doi: 10.1016/j.spen.2012.04.001.
The diagnosis of neurodegeneration with brain iron accumulation (NBIA) can be challenging, particularly given recent advances in NBIA genetics and clinical nosology. Although atypical cases continue to challenge physicians, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently. In addition, the identification of genetically distinct forms of NBIA allows clinicians to better provide prognostic and family counseling services to families and may have relevance in the near future as clinical trials become available. We describe a heuristic approach to NBIA diagnosis, identify important differential considerations, and demonstrate important neuroimaging features to aid in the diagnosis.
神经退行性脑铁蓄积症（NBIA）的诊断具有一定挑战性，特别是鉴于 NBIA 遗传学和临床分类学的最新进展。尽管非典型病例仍在不断挑战着医生，但通过考虑临床特征以及相关神经影像学发现，仍可做出 NBIA 的明确诊断。此外，不同遗传形式 NBIA 的鉴定使临床医生能够更好地为患者及其家属提供预后和家庭咨询服务，并且在不久的将来，随着临床试验的开展，这可能具有重要意义。我们描述了一种用于 NBIA 诊断的启发式方法，确定了重要的鉴别考虑因素，并展示了有助于诊断的重要神经影像学特征。
