Campistol J
Servicio de Neurología, Unitat Integrada de Pediatria Hospital Sant Joan de Déu-Clínic, Hospital Universitari Sant Joan de Déu, Esplugues de Ll., Barcelona.
Rev Neurol. 1999;28(1):16-23.
Inherited metabolic diseases (IMD) have a variable clinical and biological expression. In the last few years neuroimaging (MR, spectroscopic MR, PET, SPECT) have demonstrated the neurological impairment in some IMD. Biochemical analysis of the brain is possible due to spectroscopy MR. Neuroimaging in the IMD is not always definite but can frequently demonstrate an impairment in gray or white matter, basal ganglia, cerebellum or brain stem. In our article we analyze the different involvement of the central nervous system structures in IMD. On the other hand we review some brain malformations that can be related to IMD.
遗传性代谢疾病（IMD）具有多样的临床和生物学表现。在过去几年中，神经影像学检查（磁共振成像、磁共振波谱成像、正电子发射断层扫描、单光子发射计算机断层扫描）已证实某些IMD存在神经功能损害。由于磁共振波谱成像技术，对大脑进行生化分析成为可能。IMD的神经影像学检查结果并不总是明确的，但常常能显示灰质或白质、基底神经节、小脑或脑干的损害。在我们的文章中，我们分析了IMD中中枢神经系统结构的不同受累情况。另一方面，我们回顾了一些可能与IMD相关的脑畸形。
