Due to nonspecific clinical presentation, diagnosis of metabolic disorders affecting the brain is very challenging for physicians. It is always the constellation of the clinical examination, biochemical assay and imaging that helps in reaching the diagnosis of metabolic disorders. Diagnosis of these disorders or even limiting the differential diagnosis on imaging may pose a formidable challenge to the radiologist. In these two articles (Metabolic Disorders of the Brain: Parts I and II) we have tried to highlight the important clinical and imaging pearls of the major and more commonly encountered metabolic disorders. In the first article we discuss metabolic disorders related to dysfunction of the cellular organelle namely lysosomal, peroxisomal, and mitochondrial. We have also discussed the relevant genetic abnormalities, biochemical findings and application of newer imaging techniques which may aid in diagnosis of these various disorders.
All Science Journal Classification (ASJC) codes
- Radiology Nuclear Medicine and imaging