[Metabolic disorders with typical alterations in MRI].

Area of Science:

• Neurology
• Radiology
• Genetics

Context:

• Metabolic disorders present diagnostic challenges in neuroradiology due to variable morphological manifestations.
• Etiological classification is impractical for identifying specific neuroradiological findings.

Purpose:

• To present the typical Magnetic Resonance (MR) and clinical features of select metabolic disorders.
• To aid neuroradiologists in identifying and diagnosing these conditions based on imaging and clinical presentation.

Summary:

• Discusses the limitations of etiological classification for metabolic disorders in neuroradiology.
• Details the characteristic MR imaging and clinical findings for Canavan disease, Pelizaeus-Merzbacher disease, Alexander disease, X-chromosomal adrenoleukodystrophy and adrenomyeloneuropathy.
• Includes mitochondrial disorders like MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and Leigh syndrome, along with L-2-hydroxyglutaric aciduria.

Impact:

• Facilitates more accurate and timely diagnosis of specific metabolic disorders through characteristic neuroradiological findings.
• Enhances diagnostic capabilities for neuroradiologists encountering complex metabolic conditions.
• Improves patient management by enabling earlier identification of treatable metabolic encephalopathies.