Inherited or acquired metabolic disorders
Florian Eichler1, Eva Ratai2, Jason J Carroll2
1Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Handbook of Clinical Neurology
|July 20, 2016
Summary
Neuroimaging, including magnetic resonance imaging (MRI) and spectroscopy (MRS), is vital for diagnosing inherited metabolic brain disorders. Advanced techniques improve understanding and management of these complex neurological conditions.
Area of Science:
- Neurology
- Radiology
- Metabolic Disorders
Background:
- Inherited metabolic disorders significantly impact the nervous and endocrine systems.
- Neuroimaging is essential for diagnosing and managing these conditions.
- Magnetic resonance imaging (MRI) has revolutionized the classification and understanding of inherited white-matter disorders, including leukodystrophies and hypomyelinating disorders.
Purpose of the Study:
- To review pathognomonic brain MRI findings in inherited metabolic disorders.
- To discuss the diagnostic utility of proton magnetic resonance spectroscopy (MRS).
- To highlight how advanced neuroimaging aids in diagnosis and management.
Main Methods:
- Review of neuroimaging techniques, focusing on MRI and proton MRS.
- Analysis of lesion patterns and metabolic abnormalities.
- Integration of clinical and laboratory data with imaging findings.
Main Results:
- MRI enables new classifications and enhances diagnostic capabilities for inherited white-matter disorders.
- Proton MRS can directly visualize metabolic abnormalities in specific disorders.
- Advanced neuroimaging approaches improve diagnostic accuracy and patient management.
Conclusions:
- Neuroimaging is crucial for understanding the pathogenesis of inherited metabolic brain disorders.
- Combining MRI, MRS, and clinical data offers a comprehensive diagnostic strategy.
- Applying advanced neuroimaging significantly enhances the diagnosis and management of these complex conditions.
Keywords:
Metabolicbasal gangliadysmyelinatingencephalopathygeneticinheritedlysosomal diseasemagnetic resonance imagingmagnetic resonance spectroscopyMore Related Videos
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