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Inherited Neurometabolic Diseases and the Importance of Imaging-Based Classification Systems.

Radiologia brasileira(2022)

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摘要
Inherited neurometabolic disorders (INMDs) constitute a heterogeneous group of diseases that includes the so-called inborn errors of metabolism, leukodystrophies, mitochondrial diseases, and deposition diseases (1) . Although INMDs are rare individually, they collectively account for a significant propor tion of neurological diseases in children (1,2) . The clinical and imaging findings of INMDs can be nonspecific and can over -lap, making the diagnosis challenging. However, because there are treatments available for some INMDs, early diagnosis is fundamental in order to minimize or prevent neurological dam-age (1) . Therefore, it is essential that neuroradiologists are able to recognize the imaging findings that can narrow the differen tial diagnosis.
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